|
1 patient data entry collated from reference Nicastro et al, 2015. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 657 | I1185N1
| W748S5
| A 52-year-old male patient, treated for hypertension and diabetes. Progressive ataxia with palatal tremor (PAPT). progressive gait and balance difficulties since two years. audible ear click and oscillopsia. On neurological examination, he had pendular vertical nystagmus, dysarthria, kinetic and static ataxia with severe postural instability, as well as palatal tremor. He became wheelchair-bound within 4 years after the first symptoms. Family history was unremarkable on the maternal side and unknown on the paternal side. The mother of the patient died at the age of 86 without evidence of neurologic disease. | | - | movement disorder (ataxia) | |
| | 52 | 50 | 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.
|