| 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