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2 patient data entries in database for mutations K601E and Q1236H. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 681 | D122Y
Q1236H
Y837C
| K601E2
| ataxia, dysarthria and sensory axonal polyneuropathy. At age 52, the patient developed instability upon walking and paraesthesia in lower limbs, when no other symptoms were apparent. Clinical examination at age 67 revealed dysarthria, gait ataxia, hyporeflexia and tactile hypoestesia. Atrophy of the cerebellar hemispheres. Cognitive decline. left hemiparesis related to a non-traumatic subdural haematoma that required neurosurgical treatment, and began to experience myoclonus and tonic-clonic seizures. weak bilateral palpebral ptosis. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 52 | 67 | n/a | Zabalza et al, 2014; [view data] | | 682 | D122Y
Q1236H
Y837C
| K601E2
| Unsteady walk, and showed tremor in both legs when standing. Difficulty in concentrating. Dysarthria. No deep tendon reflexes were evident. Sensory axonal neuropathy. Hyperintensities in images of the subcortical frontal and temporal white substances. myoclonia and tonic-clonic seizures. sensory axonal neuropathy in the lower limbs, moderate dysarthria, and an ataxic gait. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 56 | 61 | n/a | Zabalza et al, 2014; [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: 2
Avg age of onset in displayed cases: 54.0
Std dev in onset in displayed cases: 2.0
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