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17 patient data entries in database for mutations E1143G and A467T. 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] | | 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] | | 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] | | 411 | Q879H1
E1143G
| A467T2
T885S1
| Presented with epilepsy following minor head trauma, 2 months after valproate treatment developed persistent vomiting and encephalopathy, deranged liver function tests, prolonged clotting, elevated ammonia, and a high plasma lactate, Hepatic dysfunction progressed, | | | 2 | n/a | n/a | McFarland 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] | | 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] | | 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] | | 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 | E1143G
W748S5
| 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] | | 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: 17
Avg age of onset in displayed cases: 20.0
Std dev in onset in displayed cases: 11.9
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