Table 2.
Clinical characteristics of SCA14 subjects
| Patient | Age at examination, y | Age at onset, y | SARA baseline | SARA 3 years follow up | MMS | MRI |
|---|---|---|---|---|---|---|
|
Family 1 |
|
|
|
|
|
|
| V-5 |
49 |
12 |
5.50 |
8.50 |
29 |
Cerebellar atrophy, most prominent in vermis |
| V-3 |
45 |
20 |
6.00 |
9.00 |
29 |
Cerebellar atrophy, most prominent in vermis |
| V-4 |
43 |
35 |
5.50 |
10.00 |
30 |
Cerebellar atrophy, most prominent in vermis |
| VI-3 |
20 |
10 |
10.50 |
12.50 |
29 |
Cerebellar atrophy |
| VI-1 |
20 |
10 |
4.00 |
5.00 |
30 |
** |
| VI-2 |
17 |
10 |
5.00 |
6.50 |
30 |
Minimal cerebellar atrophy |
| V-1 |
44 |
29 |
5.00 |
6.50 |
30 |
Cerebellar atrophy, most prominent in vermis |
| V-8 |
46 |
45 |
0.00 |
2.50 |
30 |
Cerebellar atrophy, most prominent in vermis |
| V-10* |
54* |
|
0 |
0 |
30 |
** |
|
Family 2 |
|
|
|
|
|
|
| III-3 | 53 | 35 | 11.00 | 14.00 | 30 | Cerebellar atrophy, some scattered unspecific white matter lesions |
*This subject was without symptoms and signs, but was confirmed to have the SCA14 mutation.
**MRI not performed.