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181 patient data entries in database for mutation W748S. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 35 | W748S5
| T251I
P587L2
| PEO, ptosis, muscle fatigue, diplopia, a mild external ophthalmoplegia affecting horizontal, but not vertical gaze. Tendonreflexes were diminished in the lower extremities and a distal sensory defect in stocking distribution was seen. | | - | external ophthalmoplegia | |
| | 45 | 50 | n/a | Tzoulis et al, 2009; [view data] | | 62 | W748S5
E1143G
| L304R3
| SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle. | | | 20 | n/a | 27 | Naimi et al, 2006; [view data] | | 79 | W748S5
E1143G
| A467T2
| Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria. | | - | movement disorder (ataxia) | |
| | n/a | 47 | n/a | Blok et al, 2009; [view data] | | 90 | W748S5
| A467T2
| MELAS-like, features including occipital lobe epilepsy. | | | n/a | 19 | n/a | Blok et al, 2009; [view data] | | 122 | W748S5
| A467T2
| Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes. | | - | movement disorder (ataxia) | |
| | 34 | n/a | n/a | Horvath et al, 2006; [view data] | | 123 | W748S5
| A467T2
| Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression. | | | 34 | n/a | n/a | Schulte et al, 2009; [view data] | | 124 | W748S5
| A467T2
| PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF. | | - | movement disorder (ataxia) | |
| | 39 | n/a | n/a | Stewart et al, 2009; [view data] | | 125 | W748S5
| A467T2
| Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 18 | n/a | Tang et al, 2011; [view data] | | 129 | W748S5
| A467T2
| Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia. | | - | movement disorder (ataxia) | |
| | n/a | 40 | n/a | Blok et al, 2009; [view data] | | 137 | W748S5
| P587L2
P589L2
| Encephalopathy onset 16 years of age, presented with epilepsy. | | | 16 | n/a | n/a | Ashley et al, 2008; [view data] | | 156 | W748S5
| W748S5
| reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle. | | - | movement disorder (ataxia) | |
| | 16 | n/a | n/a | Ashley et al, 2008; [view data] | | 157 | W748S5
| W748S5
| cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, epilepsy, moderate cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Schulte et al, 2009; [view data] | | 158 | W748S5
| W748S5
| Ataxia, peripheral neuropathy, exercise intolerance, easy fatigueability, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 30 | n/a | Tang et al, 2011; [view data] | | 159 | R807C3
| W748S5
E1143G
| epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle. | | | 1 | n/a | 3 | Isohanni et al, 2011; [view data] | | 160 | T914P1
| W748S5
E1143G
| developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3. | | - | movement disorder (ataxia) | |
| | 2.5 | 3 | n/a | Isohanni et al, 2011; [view data] | | 161 | T914P1
| W748S5
| Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 162 | W748S5
S28C
| W748S5
| Headaches/migraines, ataxia, peripheral neuropathy, exercise intolerance, ophthalmoporesis/CPEO, abnormal EMG/NCV, ptosis, constipation, pseudo-obstruction, hearing loss, abnormal BAERS. 83% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 25 | n/a | Tang et al, 2011; [view data] | | 163 | T914P1
| W748S5
| Seizures. 98% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 164 | D930N1
| W748S5
| Onset of Alpers at 3 months, death at 19 months. Bilateral lesions of thalami. | | - | bilateral lesions of thalami | |
| | 0.3 | n/a | 1.5 | Spinazzola et al, 2009; [view data] | | 165 | R852H1
| W748S5
| Alpers. 46% mtDNA copy number in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 166 | R953C1
| W748S5
| Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 51 | n/a | Tang et al, 2011; [view data] | | 167 | H1110Y1
Q1236H
| W748S5
E1143G
| Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver. | | | 0.1 | n/a | 0.8 | Taanman et al, 2009; [view data] | | 168 | W748S5
E1143G
| W748S5
E1143G
| Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO. | | | 33 | n/a | n/a | Wong et al, 2008; [view data] | | 169 | G848S1
| W748S5
E1143G
| Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver. | | | 6.5 | n/a | 7.8 | Taanman et al, 2009; [view data] | | 170 | G848S1
| W748S5
E1143G
| Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia. | | | 1 | n/a | 11 | Isohanni et al, 2011; [view data] | | 171 | G848S1
| W748S5
| Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood. | | | n/a | 7 | n/a | Tang et al, 2011; [view data] | | 172 | G888D1
| W748S5
| Seizures, ptosis, hepatic failure, ketosis, lactic acidosis, organic aciduria/tiglyglycine, elevated pyruvate, microcephaly, abnormal MRI. 33% mtDNA copy number in muscle, 46% mtDNA copy number in blood, ETC low. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 173 | G848S1
| W748S5
| Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 174 | G848S1
| W748S5
| Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia). | | - | movement disorder (ataxia) | |
| | 6 | n/a | n/a | Ashley et al, 2008; [view data] | | 175 | G737R5
| W748S5
| PEO. Primary hypothyroidism and bilateral hearing loss of uncertain duration. She had been operated for bilateral ptosis at 75 years of age and presented to us with 2–3 years of worsening diplopia, gait unsteadiness and paresthaesiae in the distal lower limbs. asymmetrical ptosis and nearly complete external ophthalmoplegia with loss of convergence, oculocephalic reflex and Bell\'s reflex. She had symmetrical distal sensory loss in the lower limbs and absence of Achilles reflexes. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 75 | 86 | n/a | Tzoulis et al, 2009; [view data] | | 176 | L752P2
| W748S5
E1143G
| Epilepsy, seizures, VPA induced liver failure. | | | 7 | n/a | 10 | Zsurka et al, 2008; [view data] | | 177 | P1073L3
| W748S5
| Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation. | | | 0.01 | n/a | 13 | Kurt et al, 2010; [view data] | | 187 | W748S5
| R852C1
G11D
| reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver. | | - | movement disorder (ataxia) | |
| | 1 | n/a | n/a | Ashley et al, 2008; [view data] | | 197 | W748S5
| T914P1
| reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 15% mtDNA copy number in liver. | | - | movement disorder (ataxia) | |
| | 4 | n/a | n/a | Ashley et al, 2008; [view data] | | 229 | W748S5
E1143G
| R232H4
| Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis. | | | 0.5 | n/a | 1.08 | Kollberg et al, 2006; [view data] | | 233 | W748S5
E1143G
| A467T2
| psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia. COX-deficient muscle fibers, mtDNA deletions, 160% mtDNA copy number. He was normal until 11 years of age when he developed mild tremor and ataxia. At 13 years of age, he reported occasional migraine-like headaches and was found to have mild ataxia and myoclonus. generalized seizures. mild leftsided hemiparesis, external ophthalmoplegia, and peripheral neuropathy. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 11 | 24 | n/a | Kollberg et al, 2006; [view data] | | 237 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis. | | | 0.1 | n/a | 0.9 | Davidzon et al, 2005; [view data] | | 252 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion | | | 0.7 | n/a | 2.5 | Davidzon et al, 2005; [view data] | | 253 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis, | | | 1 | n/a | 6.5 | Davidzon et al, 2005; [view data] | | 255 | W748S5
E1143G
| G848S1
| hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis | | | 0.3 | n/a | 1 | Davidzon et al, 2005; [view data] | | 257 | W748S5
E1143G
| G848S1
| Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia | | | 1 | n/a | 1.7 | Nguyen et al, 2005; [view data] | | 278 | W748S5
E1143G
| W748S5
E1143G
| Stiffness, cramping of the lower extremities, foot numbness, and poor balance. The past medical history was significant for hypogonadotropic hypogonadism diagnosed 10 years prior. ophthalmoplegia without ptosis, mild lower proximal weakness, Multiple mtDNA deletions detected by PCR in muscle | | | 32 | 33 | n/a | Milone et al, 2011; [view data] | | 279 | W748S5
E1143G
| W748S5
E1143G
| progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss | | - | movement disorder (ataxia) | |
| | 32 | 33 | n/a | Milone et al, 2011; [view data] | | 286 | W748S5
| R852C1
G11D
| Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement | | - | movement disorder (ataxia) | |
| | 0.3 | n/a | 1.1 | Naess et al, 2009; [view data] | | 287 | G848S1
| W748S5
| Developemental delay, status epilepticus onset at 6 years 7 months, valproic acid therapy 6 weeks, liver failure with transplant, epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, mtDNA depletion in liver | | | 6.6 | 7.8 | n/a | Wolf et al, 2009; [view data] | | 288 | G848S1
| W748S5
| status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, | | | 10.67 | n/a | 11.5 | Wolf et al, 2009; [view data] | | 298 | W748S5
E1143G
| R722H
| mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed. | | | 11 | 22 | n/a | Komulainen et al, 2010; [view data] | | 312 | G848S1
| W748S5
| seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor | | - | movement disorder (ataxia) | |
| | 2 | 4 | n/a | Saneto et al, 2010; [view data] | | 316 | G848S1
| W748S5
| Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 2 | n/a | 6.33 | Hunter et al, 2011; [view data] | | 317 | G848S1
| W748S5
| Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers | | - | movement disorder (ataxia) | |
| | 6 | n/a | 6.75 | Hunter et al, 2011; [view data] | | 338 | W748S5
| A467T2
| gait instability, manual coordination disorder, speech disturbance and secondary generalized motor seizures, tension-type headaches, complete external ophthalmoplegia, cerebellar dysarthria and ataxia, sensory ataxia in Romberg-testing, areflexia of the lower extremities, mild cognitive dysfunction, epileptic seizures, generalised cortical atrophy, sensory axonal neuropathy, dysarthria | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| - | external ophthalmoplegia | |
| | 23 | 48 | n/a | Hansen et al, 2012; [view data] | | 339 | T914P1
| W748S5
| Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis | | - | external ophthalmoplegia | |
| | 15 | n/a | n/a | Hinnell et al, 2012; [view data] | | 341 | A467T2
| W748S5
| Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions, | | | n/a | 50 | n/a | Kinghorn et al, 2012; [view data] | | 342 | A467T2
| W748S5
| Ataxia, dysarthria, suffered two generalized seizures, and developed severe progressive cognitive decline and psychiatric manifestations including visual and auditory hallucinations, bilateral external ophthalmoplegia, bilateral ptosis, and reduced visual acuities, bilateral sensorineural hearing loss, proximal muscle weakness in all four limbs and was areflexic, severe sensory neuropathy and myopathy, | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | n/a | 18 | 65 | Kinghorn et al, 2012; [view data] | | 343 | W748S5
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 30 | 51 | n/a | Pelayo-Negro et al, 2012; [view data] | | 344 | A467T2
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 30 | 50 | n/a | Pelayo-Negro et al, 2012; [view data] | | 346 | R953C1
| W748S5
| Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy | | | n/a | 50 | n/a | Tang et al, 2012; [view data] | | 347 | W748S5
S28C
| W748S5
| migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss, | | - | movement disorder (ataxia) | |
| | n/a | 25 | n/a | Tang et al, 2012; [view data] | | 349 | R852C1
G11D
| W748S5
E1143G
| PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay, | | - | movement disorder (ataxia) | |
| | 0.001 | n/a | n/a | Vasta et al, 2012; [view data] | | 358 | R1096C3
| W748S5
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, epilepsy, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy | | | 25 | 49 | n/a | Lax et al, 2012a; [view data] | | 360 | W748S5
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy | | | 34 | 47 | n/a | Lax et al, 2012a; [view data] | | 362 | W748S5
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, Severe sensory, moderate motor axonal neuronopathy, Distal neurogenic, proximal myopathy | | - | movement disorder (ataxia) | |
| | 41 | 48 | n/a | Lax et al, 2012a; [view data] | | 363 | W748S5
| A467T2
| Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy | | - | movement disorder (ataxia) | |
| | 16 | 18 | n/a | Lax et al, 2012a; [view data] | | 364 | W748S5
| A467T2
| Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle, | | - | movement disorder (ataxia) | |
| | 20 | 24 | n/a | Lax et al, 2012a; [view data] | | 365 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity | | - | movement disorder (ataxia) | |
| | 16 | 37 | n/a | Hakonen et al, 2005; [view data] | | 366 | W748S5
E1143G
| W748S5
E1143G
| Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity | | - | movement disorder (ataxia) | |
| | 28 | 51 | n/a | Hakonen et al, 2005; [view data] | | 367 | W748S5
E1143G
| W748S5
E1143G
| Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased. | | - | movement disorder (ataxia) | |
| | 5 | n/a | 35 | Hakonen et al, 2005; [view data] | | 368 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 32 | 46 | n/a | Hakonen et al, 2005; [view data] | | 369 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 19 | 44 | n/a | Hakonen et al, 2005; [view data] | | 370 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 27 | 42 | n/a | Hakonen et al, 2005; [view data] | | 371 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 27 | 38 | n/a | Hakonen et al, 2005; [view data] | | 372 | W748S5
E1143G
| W748S5
E1143G
| Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 41 | 58 | n/a | Hakonen et al, 2005; [view data] | | 373 | W748S5
E1143G
| W748S5
E1143G
| Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 36 | 51 | n/a | Hakonen et al, 2005; [view data] | | 374 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 38 | 44 | n/a | Hakonen et al, 2005; [view data] | | 375 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps | | - | movement disorder (ataxia) | |
| | 17 | 45 | n/a | Hakonen et al, 2005; [view data] | | 376 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 23 | 45 | n/a | Hakonen et al, 2005; [view data] | | 377 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 38 | 51 | n/a | Hakonen et al, 2005; [view data] | | 378 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 24 | 55 | n/a | Hakonen et al, 2005; [view data] | | 383 | W748S5
E1143G
| A467T2
| Presented with epilepsy, headaches, epilepsy, status epilepticus, headaches, nystagmus, and neuropathy. Sodium valproate treatment for 2 months then stopped 2 months prior to death. Liver dysfunction, liver transplant 1 month prior to death, cause of death liver failure. Hepatic histology showed acute liver necrosis. | | | 20 | n/a | 20 | Tzoulis et al, 2006; [view data] | | 384 | W748S5
E1143G
| A467T2
| Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25 | | - | movement disorder (ataxia) | |
| | 24 | 43 | n/a | Tzoulis et al, 2006; [view data] | | 385 | W748S5
E1143G
| A467T2
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy. Sodium valproate treatment for 8 months. Stopped just prior to death. Liver dysfunction, cause of death liver failure. Hepatic histology showed acute liver necrosis. | | - | movement disorder (ataxia) | |
| | 10 | n/a | 10 | Tzoulis et al, 2006; [view data] | | 386 | W748S5
E1143G
| A467T2
| Presented with epilepsy and headaches, ataxia, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 6 weeks prior to death. Liver dysfunction, cause of death status epilepticus and liver failure. Hepatic histology showed acute liver necrosis. | | - | movement disorder (ataxia) | |
| | 19 | n/a | 19 | Tzoulis et al, 2006; [view data] | | 387 | W748S5
E1143G
| A467T2
| Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44 | | - | movement disorder (ataxia) | |
| | 36 | 50 | n/a | Tzoulis et al, 2006; [view data] | | 388 | W748S5
E1143G
| A467T2
| Presented with epilepsy, status epilepticus, headaches, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration. | | | 15 | n/a | 21 | Tzoulis et al, 2006; [view data] | | 389 | W748S5
E1143G
| A467T2
| Presented with epilepsy and headaches, ataxia, epilepsy, status epilepticus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration. | | - | movement disorder (ataxia) | |
| | 14 | n/a | 23 | Tzoulis et al, 2006; [view data] | | 390 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis | | - | movement disorder (ataxia) | |
| | 8 | n/a | 9 | Tzoulis et al, 2006; [view data] | | 391 | W748S5
E1143G
| W748S5
E1143G
| Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis. | | - | movement disorder (ataxia) | |
| | 8 | n/a | 9 | Tzoulis et al, 2006; [view data] | | 392 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, status epilepticus, nystagmus, neuropathy | | | 17 | 18 | n/a | Tzoulis et al, 2006; [view data] | | 393 | W748S5
E1143G
| W748S5
E1143G
| Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus. | | - | movement disorder (ataxia) | |
| | 4 | n/a | 30 | Tzoulis et al, 2006; [view data] | | 394 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure. | | - | movement disorder (ataxia) | |
| | 10 | n/a | 22 | Tzoulis et al, 2006; [view data] | | 395 | W748S5
E1143G
| W748S5
E1143G
| Presented with progressive gait unsteadiness and headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy. Died 2 months after treatment with sodium valproate, cause of death status epilepticus | | - | movement disorder (ataxia) | |
| | 15 | n/a | 57 | Tzoulis et al, 2006; [view data] | | 396 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30 | | - | movement disorder (ataxia) | |
| | 12 | 38 | n/a | Tzoulis et al, 2006; [view data] | | 397 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 18 | 19 | n/a | Tzoulis et al, 2006; [view data] | | 398 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy | | - | movement disorder (ataxia) | |
| | 17 | 27 | n/a | Tzoulis et al, 2006; [view data] | | 399 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26 | | - | movement disorder (ataxia) | |
| | 17 | 38 | n/a | Tzoulis et al, 2006; [view data] | | 400 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset at age 28. Acute liver failure after 4 months of sodium valproate treatment | | - | movement disorder (ataxia) | |
| | 19 | 33 | n/a | Tzoulis et al, 2006; [view data] | | 401 | | W748S5
E1143G
| Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65 | | - | movement disorder (ataxia) | |
| | 55 | 74 | n/a | Tzoulis et al, 2006; [view data] | | 402 | A467T2
| W748S5
K561M2
| Feeding difficulties 2 days after birth and trunk hypotonia, dysmorphy, hypotonia, coloboma, heart failure at 2 months, liver insufficiency at 4 months. Liver and muscle mtDNA depletion. | | | 0.001 | n/a | 0.5 | Sarzi et al, 2007; [view data] | | 404 | W748S5
E1143G
| | Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion. | | | 2 | n/a | 3 | Sarzi et al, 2007; [view data] | | 410 | W748S5
| W748S5
| Presented with focal epileptic seizures, external ophthalmoplegia and gait unsteadiness. At age 28, during her first pregnancy, she was admitted with focal epileptic seizures that were highly resistant to treatment. Two months later her symptoms worsened and included myoclonic jerks in the extremities and facial dyskinesias. Treatment with sodium valproate resulted in acute severe hepatic failure and she underwent a successful liver transplantation. At 35 mild cognitive deficit, cerebellar dysarthria, palatal tremor, facial dyskinesias, myoclonus, cerebellar and sensory ataxia and signs of peripheral neuropathy with loss of reflexes and sensory disturbance were also present | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 19 | 35 | n/a | Johansen et al, 2008; [view data] | | 412 | A467T2
| W748S5
| episodic headache, cognitive decline, and seizures, repeatedly resulting in generalized status epilepticus, ataxia, sensorimotor peripheral neuropathy, dysarthria, PEO with diplopia, mild bilateral ptosis, epilepsy, cognitive impairment, myoclonus, | | - | movement disorder (ataxia) | |
| | 28 | 39 | n/a | Paus et al, 2008; [view data] | | 413 | A467T2
| W748S5
E1143G
| Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy | | - | movement disorder (ataxia) | |
| | 36 | 37 | n/a | Paus et al, 2008; [view data] | | 414 | W748S5
E1143G
| W748S5
E1143G
| patient noticed gait and balance difficulties at age 46 years, ataxia, CPEO, cortical and cerebellar atrophy, axonal sensory polyneuropathy, Symmetrical bradykinesia and rigidity, mild tremor, paranoid delusions, During the last 2 years of life he had marked rigidity, dysphagia, myoclonic jerks and dystonia | | - | movement disorder (ataxia) | |
| | 46 | 65 | n/a | Remes et al, 2008; [view data] | | 415 | W748S5
E1143G
| W748S5
E1143G
| Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus | | | 14 | 15 | n/a | Uusimaa et al, 2008; [view data] | | 416 | W748S5
E1143G
| W748S5
E1143G
| Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure | | | 17 | 21 | n/a | Uusimaa et al, 2008; [view data] | | 417 | W748S5
E1143G
| W748S5
E1143G
| Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure | | | 15 | n/a | 20 | Uusimaa et al, 2008; [view data] | | 420 | W748S5
E1143G
| A143V1
| Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement | | - | movement disorder (ataxia) | |
| | 40 | 49 | n/a | Amiot et al, 2009; [view data] | | 428 | Indel:
p.Arg1161_Phe1180del20
| W748S5
| R-EPC (refractory epilepsia partialis continua), delayed psychomotor development. Has unrelated healthy parents. Pregnancy and birth were unremarkable. She had had a moderately delayed psychomotor development with sitting posture at 9 months of age and walking at 20 months of age. At 3 years old, she presented with acute partial status epilepticus. After this first episode, she developed refractory EPC with neurological regression leading to a severe encephalopathy. At 4 years, she was unable to hold her head up or to sit and had poor contact. Muscle biopsy showed lipid accumulation and spectrophotometric measurements of the indivi- dual RC complexes revealed CIII deficiency, associated with decreased activitiy of complexes II and V. In the liver, specific activity of complexes I, III and V was also affected. mtDNA depletion was identified by qPCR (25% of the mean normal control amount of mtDNA relative to nuclear DNA in the muscle and 30% in the liver). Sequencing identified only one heterozygous mutation (p.Trp748Ser) in POLG, inherited from the mother. | | | 2 | 4 | n/a | Rouzier et al, 2013; [view data] | | 439 | W748S5
| A467T2
| R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 17 | n/a | n/a | Rouzier et al, 2013; [view data] | | 440 | T914P1
| W748S5
| Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion. | | | 6 | n/a | n/a | Rouzier et al, 2013; [view data] | | 441 | W748S5
| W748S5
| Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis. | | | 37 | n/a | n/a | Rouzier et al, 2013; [view data] | | 450 | R627W5
| W748S5
| Generalized tonic-clonic seizures which, within 3 days, evolved to epilepsia partialis continua (EPC) with continuous left-sided myoclonic jerks. Multifocal brain lesions and global brain atrophy. | | | 13 | 16 | 17 | Nolte et al, 2013; [view data] | | 451 | R627W5
| W748S5
| This previously healthy 17-year-old patient developed repeated complex partial seizures starting with visual sensations, as well as myoclonic jerks of her right arm that rapidly evolved to generalized tonic-clonic seizures. Repeated complex partial seizures and considerable mental impairment. | | | 17 | 17 | n/a | Nolte et al, 2013; [view data] | | 452 | W748S5
E1143G
| W748S5
E1143G
| developed gait disturbance by the age of 35, progressing to increasing clumsiness in lower extremities, dysarthria, diplopia, and occasional amnesia at the age of 44. She developed ataxia, slight polyneuropathy, and external ophthalmoplegia. At the age of 46 she had slightly increased plasma creatine kinase levels and symmetrical cerebellar peduncular white matter signal intensity increase in brain MRI. The first epileptic seizure, requiring treatment by general anesthesia, oc- curred at the age of 55, after which she was hospitalized permanently. From her 30's, she received psychiatric care due to anxiety and depression. A neuropsychological examination revealed decrease in visual reasoning and memory functions. She deceased at the age of 56 due to pneumonia and pulmonary embolism. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 35 | n/a | 56 | Palin et al, 2012; [view data] | | 453 | | W748S5
E1143G
| No neurological symptoms, but type-2 diabetes and hypertension. | | | n/a | 63 | n/a | Palin et al, 2012; [view data] | | 454 | W748S5
E1143G
| W748S5
E1143G
| Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression. | | - | movement disorder (ataxia) | |
| | 5 | 41 | n/a | Palin et al, 2012; [view data] | | 455 | A467T2
| W748S5
E1143G
| Ataxic sensory neuropathy, dysarthria, progressive ophthalmoplegia, paresthesia of lower extremities, unsteady gait, slurred speech, absent deep tendon reflexes, vibrations, ataxic gait and positive Romberg sign. Multiple mtDNA deletions, a marked decrease in mtDNA copy number. | | - | movement disorder (ataxia) | |
| | 37 | 47 | n/a | Posada et al, 2010; [view data] | | 456 | W748S5
| A467T2
| Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 15 | 16 | n/a | Roshal et al, 2011; [view data] | | 457 | R852C1
| W748S5
Q497H2
E1143G
| Alpers/ Alpers–Huttenlocher. | | | n/a | n/a | n/a | Sofou et al, 2013; [view data] | | 459 | W748S5
| A467T2
| abnormal gait, ataxia, PEO, and jerky torticollis, mild cerebellar atrophy, sensory neuronopathy. | | - | movement disorder (ataxia) | |
| | 43 | 45 | n/a | Tuladhar et al, 2013; [view data] | | 462 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 6 | n/a | 41 | Tzoulis et al, 2013; [view data] | | 463 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 17 | n/a | 43 | Tzoulis et al, 2013; [view data] | | 464 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy. | | - | movement disorder (ataxia) | |
| | 17 | 34 | n/a | Tzoulis et al, 2013; [view data] | | 465 | W748S5
| W748S5
| Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 12 | 45 | n/a | Tzoulis et al, 2013; [view data] | | 466 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 12 | n/a | 28 | Tzoulis et al, 2013; [view data] | | 467 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 16 | n/a | 24 | Tzoulis et al, 2013; [view data] | | 468 | W748S5
| A467T2
| Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 36 | 58 | n/a | Tzoulis et al, 2013; [view data] | | 469 | W748S5
| A467T2
| Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 24 | 50 | n/a | Tzoulis et al, 2013; [view data] | | 478 | G848S1
| Q497H2
W748S5
E1143G
| The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter. | | | n/a | 0.6 | 1 | Brunetti-Pierri et al, 2008; [view data] | | 479 | G848S1
| Q497H2
W748S5
E1143G
| He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed. | | | 0.5 | 1.25 | n/a | Brunetti-Pierri et al, 2008; [view data] | | 480 | G848S1
| Q497H2
W748S5
E1143G
| He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed. | | | 0.5 | 1.25 | n/a | Brunetti-Pierri et al, 2008; [view data] | | 505 | W748S5
| A467T2
| Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 49 | 56 | n/a | Hanisch et al, 2014; [view data] | | 506 | W748S5
| A467T2
| Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 41 | 45 | n/a | Hanisch et al, 2014; [view data] | | 516 | W748S5
| A467T2
| Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease. | | - | movement disorder (ataxia) | |
| | 20 | 24 | n/a | Lax et al, 2012b; [view data] | | 520 | W748S5
E1143G
| G11D
R852C1
| Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode. | | | 1.33 | n/a | n/a | Stewart et al, 2009; [view data] | | 537 | W748S5
| A467T2
| Ataxia, neuropathy, PEO, MIRAS. | | - | movement disorder (ataxia) | |
| | n/a | 39 | n/a | Sitarz et al, 2014; [view data] | | 538 | W748S5
| W748S5
| Ataxia, neuropathy, PEO, MIRAS. | | - | movement disorder (ataxia) | |
| | n/a | 36 | n/a | Sitarz et al, 2014; [view data] | | 539 | A467T2
| W748S5
E1143G
| Started as an ataxic syndrome, Alpers, ragged red fibers, COX-deficient fibers, mtDNA deletions. mtDNA copy numbers 1.6 fold. She was healthy and developed normally until her late preschool years when she developed slowly progressive ataxia. Occasional myoclonic seizures, and at 13 years of age, valproate treatment was started because of occipital seizures. ataxia, dementia, and cortical blindness. She developed refractory seizures, including multifocal EPC, status epilepticus, and myoclonus. | | - | movement disorder (ataxia) | |
| | 5 | 13 | 14 | Kollberg et al, 2006; [view data] | | 543 | W748S5
E1143G
| E1163G1
| Ragged Red Fibers, COX-Deficient Fibers. mtDNA depletion. He was healthy and his development was normal until 5 months of age. He developed failure to thrive and muscular hypotonia. At 4 years of age, he developed myoclonus, which was first limited to the right eye and the right side of the mouth, but then progressed to epilepsia partialis continua of the entire left side of the body without loss of consciousness. He has developed a complex movement disorder and cognitive impairment, but contact, speech, and memory functions have been retained. He also had ptosis and uncontrolled and uncoordinated movements, especially in his arms. | | - | movement disorder (ataxia) | |
| | 0.417 | n/a | n/a | Kollberg et al, 2006; [view data] | | 548 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 6 | n/a | 41 | Tzoulis et al, 2014; [view data] | | 549 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy | | - | movement disorder (ataxia) | |
| | 15 | n/a | 24 | Tzoulis et al, 2014; [view data] | | 550 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 17 | n/a | 43 | Tzoulis et al, 2014; [view data] | | 551 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 12 | n/a | 28 | Tzoulis et al, 2014; [view data] | | 552 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 13 | Tzoulis et al, 2014; [view data] | | 553 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 16 | n/a | 24 | Tzoulis et al, 2014; [view data] | | 554 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 15 | n/a | 57 | Tzoulis et al, 2014; [view data] | | 555 | W748S5
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy. | | - | movement disorder (ataxia) | |
| | 14 | n/a | 23 | Tzoulis et al, 2014; [view data] | | 556 | W748S5
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy. | | - | movement disorder (ataxia) | |
| | 13 | n/a | 21 | Tzoulis et al, 2014; [view data] | | 575 | W748S5
| W748S5
| PEO, epilepsy, early-onset cerebellar ataxia. Dysarthria, sensory neuropathy, Cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Schicks et al, 2010; [view data] | | 580 | W748S5
| W748S5
| early-onset ataxia, epilepsy, sensory neuropathy. | | - | movement disorder (ataxia) | |
| | 12.5 | n/a | n/a | Schicks et al, 2010; [view data] | | 581 | W748S5
| W748S5
| Dystonia of both arms, with predominant dystonic ulnar deviation of the right upper limb with jerky wrist and finger movements. Also her feet show unpatterend jerky movements, which may be classified as myoclonus but are also similar to limb movements in benign hereditary chorea. external ophthalmoplegia, slowing of voluntary saccades and gait ataxia started. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 33 | n/a | n/a | Synofzik et al, 2010; [view data] | | 582 | W748S5
| W748S5
| dystonic ulnar deviation of the left upper limb with distal predominance. She showed intermittent facial and jaw opening dystonia. At rest, she had marked postural instability caused by trunk ataxia, which is aggravated by motor actions like e.g. lifting the upper limbs. severe dysarthria, incomplete horizontal and vertical external ophthalmoplegia and ataxia were observed as clinical features of MIRAS. Patient 2 was only able to stand assisted for a few seconds. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 40 | n/a | n/a | Synofzik et al, 2010; [view data] | | 584 | W748S5
E1142G
| T251I
P587L2
| Akinetic-rigid Parkinsons. impaired balance, freezing, and increased salivation. Constipation and muscle cramps. He had arterial hypertension and mild normocytic anemia. cytochrome c oxidase-negative muscle fibers. | | | 49 | 65 | n/a | Ylönen et al, 2013; [view data] | | 585 | R993C
| W748S5
E1143G
| late-onset parkinsons. Tremor. Cardiac arrhythmia. | | | 72 | n/a | n/a | Ylönen et al, 2013; [view data] | | 593 | W748S5
Q497H2
E1143G
| W748S5
Q497H2
E1143G
| Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 23 | 38 | n/a | Winterthun et al, 2005; [view data] | | 594 | W748S5
Q497H2
E1143G
| W748S5
Q497H2
E1143G
| Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 15 | 18 | n/a | Winterthun et al, 2005; [view data] | | 610 | Frameshift:
nt2842_2843insAI948fsX968
| W748S5
E1143G
| Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis | | | 0.25 | n/a | n/a | Sarzi et al, 2007; [view data] | | 616 | W748S5
E1143G
| A467T2
| minor tremor of the hands from age 12 years. In his late 20s, he experienced tingling in both hands, followed by tingling in the legs. In the early fourth decade, he became unsteady at walking, especially in the dark. From his early 40s, his speech became slurred (dysarthria). On examination at age 52 years, he had an ataxic gait, and Romberg test was positive. There was dysarthria and bilateral ophthalmoparesis. generalized areflexia. | | - | movement disorder (ataxia) | |
| | 12 | 52 | n/a | Van Goethem et al, 2004; [view data] | | 617 | W748S5
E1143G
| W748S5
E1143G
| plurimetabolic syndrome. At age 30 years, he noted disturbed balance, and ataxia and severe axonal neuropathy were diagnosed. On examination at age 32 years, he had slowed ocular pursuit movements but with full range of motion. He had severe gait ataxia, imbalance, and trunk ataxia, as well as clumsiness of the hands. Achilles tendon reflexes were absent. dysarthria, obesity, chronic motor axonopathy, moderate sensory neuropathy at the upper limbs, mild neurogenic atrophy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 30 | 33 | n/a | Van Goethem et al, 2004; [view data] | | 626 | Splice site
mutation:
C.2480+1G>A
| W748S5
E1143G
| Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay | | | 4 | n/a | n/a | Wong et al, 2008; [view data] | | 627 | Q497H2
W748S5
E1143G
| A467T2
| Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay | | - | movement disorder (ataxia) | |
| | 17 | n/a | n/a | Wong et al, 2008; [view data] | | 641 | G848S1
| Q497H2
W748S5
E1143G
| developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 650 | Splice site
mutation:
novelsplicemutation
| W748S5
| Alpers. At 7 months she developed focal clonic Status epilepticus. SE subsided slowly after a continuous infusion of valproic acid. she developed severe muscular hypotonia and feeding difficulties necessitating nasogastric feeding. Twelve weeks after disease onset, she was readmitted with vomiting and pneumonia. Infantile scoliosis. | | | 0.58 | n/a | 0.83 | Wolf et al, 2009; [view data] | | 652 | R869X1
| W748S5
| Alpers syndrome. At the age of 12 months, he became progressively ataxic and recurrent convulsions appeared, developing quickly to severe epileptic encephalopathy. Fulminant liver failure. Severe mitochondrial depletion found in the liver tissue on autopsy. | | | 1 | n/a | 2.5 | Kaliszewska et al, 2015; [view data] | | 654 | Frameshift:
Thr1053Argfs*6
| W748S5
| a psychomotor retardation and muscle hypotonia were observed since 2 months of age, and autistic behaviour was observed during early childhood. At the age of 3 years, the patient was given valproic acid due to episodes of unconsciousness and abnormal EEG pattern and responded suddenly with an acute liver failure. | | | 1.67 | n/a | 3.5 | Kaliszewska et al, 2015; [view data] | | 655 | V1106A1
| W748S5
| SANDO. In spite of normal developmental milestones, the patient started to have walking difficulties at the age of 13 years. Her condition deteriorated, and she developed ataxic gait and dysarthria. Two years later, she developed action-exacerbated myoclonus. Nerve conduction studies showed sensorymotor polyneuropathy of lower limb nerves. | | - | movement disorder (ataxia) | |
| | 13 | 15 | n/a | Kaliszewska et al, 2015; [view data] | | 656 | W748S5
| W748S5
| A 30-year-old man with sensorineural hearing loss presented with subacute somnolence, slurred speech, and unsteady gait following treatment with peginterferon a-2b and ribavirin for chronic hepatitis C virus. Examination revealed scanning speech, horizontal nystagmus, gait ataxia, and symmetric hyporeflexia with distal sensory loss. Bilateral hypertrophic olivary degeneration. | | - | movement disorder (ataxia) | |
| | n/a | 30 | n/a | Arkadir et al, 2015; [view data] | | 657 | I1185N1
| W748S5
| A 52-year-old male patient, treated for hypertension and diabetes. Progressive ataxia with palatal tremor (PAPT). progressive gait and balance difficulties since two years. audible ear click and oscillopsia. On neurological examination, he had pendular vertical nystagmus, dysarthria, kinetic and static ataxia with severe postural instability, as well as palatal tremor. He became wheelchair-bound within 4 years after the first symptoms. Family history was unremarkable on the maternal side and unknown on the paternal side. The mother of the patient died at the age of 86 without evidence of neurologic disease. | | - | movement disorder (ataxia) | |
| | 50 | 52 | n/a | Nicastro et al, 2015; [view data] | | 668 | W748S5
| W748S5
| a unique combination of lesions in the thalamus, cerebellum and inferior olivary nucleus. ataxia, dysarthria, external ophthalmoparesis, generalized areflexia, abnormal leg pallesthesia, wide-based gait, positive, Romberg test, dysmetria, and a predominantly left dysdiadochokinesia. distal sensorimotor neuropathy. | | - | movement disorder (ataxia) | |
| | 24 | 29 | n/a | Henao et al, 2016; [view data] | | 670 | W748S5
| W748S5
| progressive balance difficulties, impaired gait and coordination (ataxia), slurred speech, diplopia, and hypoacusis, insidious cognitive decline, esophoria. Upon exam, signs of both cerebellar and sensory ataxia (positive Romberg’s sign) as well as chorea, myoclonus, areflexia, and complete loss of vibration sense were found. Bradykinesia and marked postural instability. Eye examination revealed broken up smooth pursuit, nystagmus, mild dysconjugation of lateral eye movements, hypometric saccades and partial restriction of vertical gaze. Psychometric evaluation revealed deficits in information processing speed, working memory, attention, and visuospatial skills. A mild sensorineuronal hearing loss. | | - | movement disorder (ataxia) | |
| | 48 | 60 | n/a | Paucar et al, 2016; [view data] | | 672 | W748S5
E1143G
| W748S5
| Focal seizures with left visual field symptoms and motor signs. Neurological examination disclosed PEO, dysarthria, decreased reflexes, loss of proprioception distally in the legs, discrete pyramidal signs and appendicular ataxia on the left side with an ataxic gait. Mild cognitive decline was present. infratentorial white matter lesions, axonal polyneuropathy. negative myoclonus. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 26 | 28 | 33.5 | Janssen et al, 2016; [view data] | | 674 | W748S5
E1143G
| A467T2
| Migraine, ataxia, polyneuropathy. focal seizures with visual symptoms and motor signs, and secondary generalized tonic-clonic seizure. Clinical neurological examination revealed an ataxic gait and areflexia with sensory loss. Convulsive status epilepticus. Cerebral MRI revealed a left occipital and left thalamic lesion. | | - | movement disorder (ataxia) | |
| | 17 | 20 | 23 | Janssen et al, 2016; [view data] | | 675 | W748S5
| W748S5
| He presented with two focal seizures with jerking of the right arm and leg. Brain imaging showed a T2-hyperintense lesion in the left frontal lobe. Focal status epilepticus characterized by visual hallucinations in the left visual fields. An appendicular ataxia, nystagmus and areflexia. His level of consciousness deteriorated, evolving into a refractory subtle SE. The patient died eventually after 5 months of continuous epileptic activity due to a septic shock. | | - | movement disorder (ataxia) | |
| | 17 | 20 | 20 | Janssen et al, 2016; [view data] | | 676 | W748S5
| A467T2
| She had occipital lobe and secondarily generalized seizures. In addition, she had PEO, truncal and appendicular ataxia and peripheral neuropathy with diminished vibration sense and areflexia. She reported sporadic occurrence of seizures with a frequency of once in every few months. | | - | movement disorder (ataxia) | |
| | 21 | 47 | n/a | Janssen et al, 2016; [view data] | | 677 | W748S5
E1143G
| A467T2
| Presented with status epilepticus, occipital lobe seizures. Further neurologic examination showed ataxic gait and appendicular ataxia. chronic sensory axonal polyneuropathy. Cognitive decline. At follow-up consultation 6 months after the initial presentation, she had not experienced any more seizures. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 18 | 18.7 | n/a | Janssen et al, 2016; [view data] | | 687 | T914P1
| W748S5
| mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder | | - | movement disorder (ataxia) | |
| | 1.1 | n/a | n/a | Ashley et al, 2008; [view data] | | 698 | Frameshift:
Y1210fs1216X
| W748S5
E1143G
| An apparently myogenic torticollis was noticed after a few months of life; at 10 months, he had two episodes of sudden head drop, followed by the onset of psychomotor arrest/ regression, hypotonia, ataxia and focal myoclonus of the right upper limb. In the following weeks, the myoclonus became subcontinuous, and was associated with rapidly progressive, severe generalized hypotonia and weakness requiring ventilatory assistance. Seizures were partially controlled with a combination of topiramate, clobazam and phenylbarbiturate. symmetrical lesions of the basal ganglia, thalami, cerebellar dentate nuclei and left occipital cortical and subcortical regions. abnormal accumulation of lactic acid in the putamen and a reduction of the N-acetyl aspartate. cholestatic jaundice, hypoglycaemia and hypocoagulation. The diagnostic conclusion was Alpers syndrome. | | - | movement disorder (ataxia) | |
| | 0.2 | n/a | 2.5 | Ferrari et al, 2005; [view data] | | 699 | Frameshift:
Y1210fs1216X
| W748S5
E1143G
| disease-free interval in the first 4 months after birth, followed by persistent vomiting, epileptic crises with loss of eye contact, and myoclonus in the upper limbs with secondary generalization and loss of consciousness. Persistent myoclonus in the upper limbs was associated with profound hypotonia and loss of eye contact. cortical atrophy and leukoencephalopathy in the subcortical areas of the frontal lobes. progressive hepatic failure with enlarged liver, hypoalbuminaemia and predominantly cholestatic jaundice led to the death of the child at 8 months of age. | | | 0.3 | n/a | 0.67 | Ferrari et al, 2005; [view data] | | 700 | L244P4
| W748S5
E1143G
| epilepsia partialis continua at 10 months, pyramido-cerebellar syndrome 19 months, myoclonic seizures when 4.5 years old. myoclonic jerks. At the age of 8 years, a brain CT scan showed atrophy of the right occipital cortex. signs and symptoms of liver dysfunction. chronic progressive liver disease. diffuse cortical atrophy. myoclonic epilepsy became resistant to any medication, myoclonic status along with episodes of respiratory failure. His clinical condition rapidly worsened and led to a vegetative state. | | | 0.8 | 9 | 15 | Simonati et al, 2003b; [view data] | | 701 | L244P4
| W748S5
E1143G
| myoclonic fits of the right limbs and then a dystonic-ataxic syndrome at the age of 5 months. He had a rapid clinical deterioration. At age 6 months, a brain CT scan showed diffuse cortical atrophy. acute hepatic failure. | | | 0.42 | n/a | 1.1 | Simonati et al, 2003b; [view data] | | 707 | Nonsense
mutation:
c.3643+2T>C
| E1143G
W748S5
| At 16 months of age, he started a severe status epilepticus. Cerebral MRI showed brain cortical atrophy. he developed intractable epileptic encephalopathy associated with generalized hypotonia and cortical blindness. diffuse hypotonia, lethargy and vomiting. During the two following years, epilepsy was always very active including spasms and myoclonic jerks. progressive hepatic failure. Alpers. | | | 1.33 | n/a | 4.17 | Mousson de Camaret et al, 2011 [view data] |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details. Number of displayed patient cases: 181
Number of patient cases marked as outliers: 2 (cases excluded from avg: 404, 552)
Avg age of onset in displayed cases: 18.9
Std dev in onset in displayed cases: 15.9
|