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7 patient data entries collated from reference Kollberg et al, 2006. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 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. | | | n/a | 0.5 | 1.08 | | 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 | |
| | 24 | 11 | n/a | | 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) | |
| | 13 | 5 | 14 | | 540 | R574W2
| A467T2
| The girl was healthy and developed normally until one year of age when, during a mild respiratory infection, she had repeated multifocal partial seizures with clonic jerking and unconsciousness. The episode was later followed by the development of muscular hypotonia and of myoclonus. Mild psychomotor regression, ataxia, and slightly elevated serum transaminases were noticed. At 3 years of age, a mild infection provoked a prolonged status epilepticus, which lasted 3 weeks and included stroke-like features and rightsided hemiparesis. This was followed by a progressive deterioration of cognitive and motor functions and the development of ptosis and external ophthalmoplegia. Alpers. Febrile infections provoked repetitive status epilepticus with seizures in the form of migrating epilepsia partialis continua. mtDNA Deletions. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 1.5 | 1 | 4.333 | | 541 | R574W2
| A467T2
| mtDNA Deletions. She was healthy until 7 months of age when she, in association with pyelonephritis, had onset of myoclonic seizures and weakness of the left arm and leg. leftsided myoclonic seizures progressing to status epilepticus in the form of migrating EPC and unconsciousness. pneumonia and colitis. | | | 1 | 0.583 | 1.166 | | 542 | G848S1
| A467T2
| Ragged Red Fibers, COX-Deficient Fibers. The boy had feeding difficulties with failure to thrive since 3 months of age. Delayed motor development. general muscle weakness and ataxia. compromised liver function. | | - | movement disorder (ataxia) | |
| | n/a | 0.33 | 1.33 | | 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) | |
| | n/a | 0.417 | n/a |
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.
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