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17 patient data entries in database for clusters 2 and 2 in age group "childhood". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 425 | K768E2
| M464T2
| Slowly progressive isolated neuropathy. At 5 years of age, she presented generalized areflexia. At 20 years of presented with sensory ataxia followed by distal muscle weakness and hypoesthesia of the lower limbs. Axonal sensorimotor polyneuropathy, sensory ataxia, muscle biopsy revealed numerous RRF, COX-negative fibers (5%) and mtDNA multiple deletions. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 5 | 53 | n/a | Rouzier et al, 2013; [view data] | | 697 | A467T2
| A467T2
| During his early childhood, he had frequent “acetonaemic vomiting” and stunted growth. At age 7 years, he developed EPC and sensory ataxia. epilepsia partialis continua, followed by progressive ataxia Reduced density of the white matter. behavioural problems. Elevated blood lactate. myoclonic seizures. sensory ataxia, absent deep tendon reflexes, cerebellar dysfunction, nystagmus, peripheral vision defect, and a pale optic disk. mild atrophy of the frontal,parietal and visual cortices, focal hyperlucencies of the frontal and occipital cortex, as well as of the thalamus bilaterally, and cerebellar atrophy. COX-negative fibres. partial and generalized seizures as well as myoclonic fits. | | - | movement disorder (ataxia) | |
| | 7 | 18 | 19 | Simonati et al, 2003a; [view data] | | 673 | A467T2
| A467T2
| Sudden falls, frequent negative myoclonus, ataxic gait and loss of proprioception in the distal extremities with nerve conduction studies demonstrating a mild axonal sensory polyneuropathy. myoclonic status epilepticus, generalized tonic–clonic seizure. | | - | movement disorder (ataxia) | |
| | 12 | 18 | 27 | Janssen et al, 2016; [view data] | | 663 | A467T2
| A467T2
| MEMSA. sensory neuropathy affecting legs. normal development until the age of 6 years when she presented with an encephalopathic illness consisting of impaired consciousness, vomiting and generalised tonic-clonic seizures. One week later she developed a left homonymous hemianopia. She remained stable until the age of 13 years when she developed stimulus sensitive myoclonus, tremor and a progressive cerebellar ataxia. Mildly elevated blood lactate and alanine levels and a sensory axonal peripheral neuropathy. occipital lobe infarcts. COX negative fibres. gaze-evoked nystagmus at 17. hand tremor, stimulus- sensitive myoclonus, head titubation, and gait ataxia. | | - | movement disorder (ataxia) | |
| | 6 | 16 | n/a | Rajakulendran et al, 2016; [view data] | | 662 | A467T2
| A467T2
| Alpers. Speech and motor delay were noted at the age of two years. At three years she developed epilepsy and six months later experienced migrainous attacks associated with vomiting, vertigo and transient left-sided weakness. At the age of five years she developed status epilepticus. A month later she was noted to have nystagmus, hypotonia of the lower limbs and absent knee jerks. Liver dysfunction. | | | 3 | n/a | 5.5 | Rajakulendran et al, 2016; [view data] | | 591 | A467T2
| A467T2
| Headache, tremor. At age 20, he developed unsteadiness and dizziness. Examination showed upper limb tremor and myoclonus, and titubation. At age 31 limitation of horizontal eye movements was recorded; muscle biopsy was reported as showing no ragged red fibers. Subsequently, he developed limb and truncal ataxia, worsening ophthalmoplegia, pain in his extremities with glove and stocking sensory loss, particularly affecting proprioception, and sudden falls with altered consciousness that responded to anticonvulsant treatment. Sensory ataxia. axonal neuropathy, ophthalmoplegia, demyelination neuropathy, cognitive dysfunction, focal occipital epilepsy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 10 | 43 | n/a | Winterthun et al, 2005; [view data] | | 589 | A467T2
| A467T2
| This man developed epilepsy at age 5. At age 16 he developed unsteadiness and was euphoric. He had a right-sided divergent squint and difficulties on upgaze when the right eye would drift outward. Eye movements were otherwise full. There were horizontal nystagmus, absent tendon reflexes, and loss of proprioception distally in the legs. His gait was ataxic. Positive Romberg sign. At age 20 mild dysarthria was noted. Subsequently, he developed finger dysmetria, dysdiadochokinesis and myoclonus involving his arms, diarrhea, weight loss and cachexia, and ophthalmoplegia. Between the ages of 35 and 54 years he had infrequent seizures, but at age 55 he developed treatment-resistant status epilepticus and died. Cognitive dysfunction, axonal neuropathy, status epilepticus. | | - | demyelinating neuropathy | |
| | 5 | n/a | 55 | Winterthun et al, 2005; [view data] | | 579 | A467T2
| A467T2
| early-onset ataxia, epilepsy, sensory neuropathy. | | - | movement disorder (ataxia) | |
| | 12.5 | n/a | n/a | Schicks et al, 2010; [view data] | | 546 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 8 | n/a | 47 | Tzoulis et al, 2014; [view data] | | 84 | A467T2
| A467T2
| PEO, ataxia, seizures, encephalopathy, ptosis, sensory neuropathy, mtDNA multiple deletions. 20% COX deficient fibers, 3% ragged red fibers. | | - | movement disorder (ataxia) | |
| | 12 | n/a | n/a | Stewart et al, 2009; [view data] | | 423 | A467T2
| A467T2
| Presented with status epilepticus, cerebellar ataxia and myoclonus, epilepsia partialis continua, Transient liver dysfunction with sodium valproate treatment at age 15, refractory focal motor status at age 17, | | - | movement disorder (ataxia) | |
| | 5 | n/a | 17 | Boes et al, 2009; [view data] | | 320 | A467T2
| A467T2
| Myoclonic Seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, Abnormal Liver Enzymes, Alpers | | | 5 | n/a | 10.83 | Hunter et al, 2011; [view data] | | 315 | A467T2
| A467T2
| Hospitalized at age 7 for headache, fever, lethargy, and seizures, Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, The patient began valproate therapy at age 11 and suffered hepatic encephalopathy which resolved after carnitine therapy. | | | 7 | 28 | n/a | Brinjikji et al, 2011; [view data] | | 290 | A467T2
| A467T2
| status epilepticus onset, valproic acid therapy 12 weeks, liver failure, | | | 9.25 | 11 | n/a | Wolf et al, 2009; [view data] | | 258 | A467T2
| A467T2
| Refractory seizures, psychomotor regression, liver disease, presented with epilepsia partialis continua, Transient lactic acidemia | | | 8.5 | n/a | 9 | Nguyen et al, 2005; [view data] | | 138 | R597W2
| R597W2
| Onset 10 years of age presenting as PEO with ataxia, myopathy, exercise intolerance, peripheral neuropathy, dysarthria, GI problems multiple deletions in muscle mtDNA. 1%RRF, 18% COX deficient fibers. | | - | movement disorder (ataxia) | |
| | 10 | n/a | n/a | Stewart et al, 2009; [view data] | | 119 | R574W2
| A467T2
| Alpers. Alive at 10 years. Sister died at age 27. | | | 3 | 10 | n/a | Spinazzola et al, 2009; [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: 7.5
Std dev in onset in displayed cases: 3.0
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