Table 2. Subtype classification of patients with SCA3 and dystonia and their relatives with SCA3.
Family | Patient | SCA3 subtype | Relatives | ||
---|---|---|---|---|---|
SCA3 subtype | Clinical features | ||||
1 | 1 | 2 | aunt | 2 | A,D, N |
brother | 2 | bulging eyes, A,D, N, horizontal and vertical ophthalmoplegia | |||
nephew | 2 | A | |||
2 | 2 | 1 | brother | 3 | A,D, N, vertical ophthalmoplegia |
3 | 2 | cousin | 3 | A,D, N, tremor, spasticity, fasciculação corpo, sensib. Face and body fasciculations | |
4 | 2 | sister | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, face and body fasciculations, Babinski, hyperreflexia, spasticity | |
sister | 3 | bulging eyes, A,D, N, horizontal, Babinski ophthalmoplegia | |||
cousin | 2 | A,D, N, horizontal ophthalmoplegia, Babinski, hyperreflexia | |||
sister | 3 | bulging eyes, A,D, N, face and body fasciculations | |||
brother | 3 | bulging eyes, A,D, N, horizontal ophthalmoplegia, face and body fasciculations, Babinski, | |||
3 | 5 | 1 | sister | 4 | bulging eyes, A,D, N, horizontal ophthalmoplegia, parkinsonism, hyperreflexia, spasticity |
brother | 2 | A,D, N, horizontal ophthalmoplegia l, hyperreflexia, spasticity | |||
sister | 7 | bulging eyes, A,D, N, horizontal ophthalmoplegl, fasciculation, parkinsonism, Babinski, hyperreflexia | |||
4 | 6 | 1 | brother | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, hyperreflexia |
sister | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, hyperreflexia | |||
brother | 2 | bulging eyes, A,D, N, Babinski, hyperreflexia | |||
father | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, fasciculation, hyperreflexia, esspasticity | |||
brother | 3 | bulging eyes, A,D, N, horizontal ophthalmoplegia, fasciculation | |||
sister | 2 | A,D, N, hyperreflexia | |||
5 | 7 | 1 | sister | 2 | A,D, hyperreflexia |
6 | 8 | 1 | brother | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, fasciculation, hyperreflexia |
7 | 9 | 1 | father | 2 | bulging eyes, A,D, tremor,Babinski, hyperreflexia, spasticity, fasciculation, neurogenic bladder |
brother | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, hyperreflexia, spasticity, fasciculation | |||
8 | 10 | 2 | cousin | 2 | bulging eyes, A,D, N, horizontal ophthalmoplegia, hyperreflexia |
brother | 1 | A,D, N, horizontal ophthalmoplegia, fasciculation, parkinsonism, hyperreflexia, spasticity | |||
cousin | 3 | bulging eyes, A,D, N, horizontal ophthalmoplegia, fasciculation, periferic neuropathy | |||
cousin | 2 | A,D, N, hyperreflexia | |||
cousin | 2 | A,D, N, horizontal ophthalmoplegia | |||
cousin | 6 | A,N, horizontal ophthalmoplegia | |||
cousin | 4 | bulging eyes, A,D, N, horizontal ophthalmoplegia, parkinsonism, tremor, fasciculation | |||
9 | 11 | 1 | - | - | - |
12 | 1 | - | - | - | |
13 | 1 | - | - | - | |
14 | 1 | - | - | - |
A Ataxia, D:Disartria, N: Nystagmus