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5 patient data entries collated from reference Ferrari et al, 2005. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 33 | R232G4
| T251I
P587L2
| Infantile hepatocerebral, presented at 3 months as hypotonia followed by mtDNA depletion in liver, dementia, and death at 6 months by ventilatory insufficiency. | | | n/a | 0.3 | 0.5 | | 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) | |
| | n/a | 0.2 | 2.5 | | 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. | | | n/a | 0.3 | 0.67 | | 702 | G848S1
| A467T2
| He developed normally in the first 6 months. Refusal of food and failure to thrive were noted from the 7th month of life. At 1 year of age, increased transaminase levels in the blood were accompanied by liver enlargement and hyperecogenicity. Motor development was delayed. hypoglycaemic episodes and lactic acidosis. A liver biopsy at the age of 16 months revealed steatosis and fibrosis. At 20 months of age, he had numerous episodes of status epilepticus and epilepsia partialis continua. The patient died at 2.5 years of age during an episode of status epilepticus. Alpers’ syndrome. | | | n/a | 0.5 | 2.5 | | 704 | A957P1
| A467T2
| mild motor retardation was first noted at 6 months. At the age of 16 months, he was admitted to a local hospital for status epilepticus. At 18 months, generalized brain atrophy. epilepsia partialis continua, which was partially controlled by carbamazepine, later switched to oxcarbazepine. Elevated blood lactate. Alpers. He died at 2 years of age after severe complications from liver failure. | | | n/a | 0.5 | 2 |
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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