Introduction
Design/methods
Patient no. | Sex | Age | Type | Age at onset | Duration (in years) | Brain MRI findings | Neurological findings |
---|---|---|---|---|---|---|---|
1 | Male | 60 | SAOA | 58 | 2 | Normal | 1, 5 (unilateral), 6, 7, horizontal hypermetric saccades, square wave jerks |
2 | Male | 51 | SAOA | 48 | 3 | Normal | 1, 2, 3, 6, 7 hypometric saccades |
3 | Male | 54 | SAOA | 51 | 3 | Normal | 1, 2, 7, 8 |
4 | Female | 63 | SAOA | 38 | 25 | Atrophy of vermis | 1, 2, 3, 4, 6, 7 |
5 | Male | 23 | SCA2 | 20 | 3 | Atrophy of cerebellum | 1, 2, 7, slow saccades |
6a
| Female | 57 | ADCA | 44 | 9 | Atrophy of the vermis | 1, 3 |
7a
| Female | 68 | ADCA | 54 | 14 | Atrophy of the vermis | 1, 2, 3, 6, 7, 8, hypometric saccades, SVV deviation |
8 | Female | 47 | SCA1 | 44 | 3 | Atrophy of the cerebellum | 1, 2, 5 (bilateral), 6, 7, hypermetric saccades |
9 | Female | 56 | SAOA | 54 | 2 | Atrophy of the vermis and anterior lobe | 1, 6 |
10b
| Male | 25 | AOA | 12 | 13 | Atrophy of cerebellum | 1, 2, 7 PNP, muscle atrophy, dysarthrophonia, ocular apraxia |
11b
| Male | 23 | AOA | 11 | 12 | Atrophy of cerebellum | 1, 2, 7 PNP, muscle atrophy, dysarthrophonia, ocular apraxia |
12b
| Male | 19 | AOA | 10 | 9 | Atrophy of cerebellum | 1, 7 PNP, muscle atrophy, dysarthrophonia, ocular apraxia |
13b
| Male | 13 | AOA | 11 | 2 | Atrophy of cerebellum | 7 Dysarthrophonia |
Results
Patient no. | Baseline | On medication | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
SARA | 8 MW | PATA | 9HPT-D | 9HPT-N | SARA | 8 MW | PATA | 9HPT-D | 9HPT-N | |
1 | 13.00 | –c
| –c
| –c
| –c
| 9.00 | –c
| –c
| –c
| –c
|
2 | 14.00 | 5.10 | 20.00 | 32.00 | 38.00 | 12.00 | 4.80 | 26.00 | 21.00 | 41.00 |
3 | 12.00 | 4.90 | 14.00 | 41.20 | 38.20 | 9.50 | 4.70 | 22.00 | 37.80 | 33.80 |
4 | 11.50 | 8.60 | 15.00 | 28.80 | 30.40 | 7.00 | 8.10 | 24.00 | 26.80 | 27.10 |
5 | 13.00 | 5.20 | 23.00 | 41.40 | 40.70 | 9.00 | 4.40 | 23.00 | 30.40 | 29.90 |
6a
| 8.00 | 6.60 | 16.00 | 25.90 | 25.40 | 6.00 | 6.00 | 24.00 | 24.60 | 25.40 |
7a
| 17.00 | 10.10 | 19.00 | 37.60 | 40.70 | 11.00 | 8.00 | 22.00 | 29.70 | 38.70 |
8 | 17.00 | 14.60 | 24.00 | 62.00 | 49.80 | 12.50 | 12.70 | 25.00 | 59.10 | 51.70 |
9 | 13.00 | 6.70 | 14.00 | 45.00 | 30.70 | 12.00 | 6.50 | 26.00 | 35.70 | 27.80 |
10b
| 27.00 | –d
| 11.00 | –d
| –d
| 27.00 | –d
| 11.00 | –d
| –d
|
11b
| 27.00 | 62.20 | 17.00 | –d
| –d
| 23.00 | 44.00 | 18.00 | –d
| –d
|
12b
| 29.00 | 28.60 | 11.00 | –d
| –d
| 22.00 | 27.30 | 13.00 | –d
| –d
|