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3 patient data entries in database for mutations A862T and R964C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 191 | R964C1
| A862T1
| Onset 17 years with ataxia, exercise intolerance, cerbellar atrophy, SCAE, seizures, dementia. | | - | movement disorder (ataxia) | |
| | 17 | n/a | n/a | Wong et al, 2008; [view data] | | 192 | R964C1
| A862T1
| Progressively focal motor and tonic-clonic seizures, delayed psychomotor development, sensoriaxonal neuropathy, mild tetraparesis, cerebellar syndrome, intestinal pseudoobstruction, died via refractory status epilepticus. | | - | demyelinating neuropathy | |
| | 5 | n/a | 23 | Stricker et al, 2009; [view data] | | 193 | R964C1
| A862T1
| Progressive cerebellar ataxia, neuropathy, restless legs syndrome, hemihypesthia, myoclonic epileptic seizures, severe ataxia, dysphagia, muscle strength preserved, migraines, headaches, abdominal pain, death via prolonged status epilepticus. | | - | movement disorder (ataxia) | |
| | 15 | n/a | 27 | Stricker 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: 3
Avg age of onset in displayed cases: 12.3
Std dev in onset in displayed cases: 5.2
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