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44 patient data entries in database for mutations A467T and W748S. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 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] | | 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] | | 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] | | 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] | | 344 | A467T2
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 30 | 50 | n/a | Pelayo-Negro et al, 2012; [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] | | 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] | | 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] | | 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] | | 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] | | 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] | | 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] | | 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] | | 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] | | 537 | W748S5
| A467T2
| Ataxia, neuropathy, PEO, MIRAS. | | - | movement disorder (ataxia) | |
| | n/a | 39 | 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] | | 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] | | 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] | | 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] | | 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] | | 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] |
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: 44
Avg age of onset in displayed cases: 25.3
Std dev in onset in displayed cases: 12.3
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