Table 1.
patient [pedigree number] | sex | age of onset | action myoclonus | tonic clonic seizures | ataxia | demyelinating polyneuropathy | hearing impairment | age at death [yrs] |
---|---|---|---|---|---|---|---|---|
II:1 | m | 14 | 14 | 20 | 14 | + | NA | 31 |
II:6 | f | 20 | 20 | 20 | 20 | + | 26 | 34 |
II:3 | m | 20 | 26 | 32 | 20 | + | NA | 38 |
II:5 | f | 14 | - | 14 | - | unclear | - | alive |
If known, the age of onset [yrs] of a feature is indicated; "+" = present but age of onset unknown; "-" = absent; "NA" = not assessed.