Figure 1
Autosomal Dominant Inheritance of SCA3 in a Caribbean Family. Solid symbols indicate affected subjects where family history was certain. The red arrow indicates the proband, and the black arrows indicate the three patients who were clinically examined. Intermediate symbols indicate individuals who are possibly affected based on family history. Age of onset and the number of CAG repeats in the ATXN1 gene are indicated.
Figure 2
Brain Magnetic Resonance Imaging of Patient IV-4 Shows Progressive Cerebellar Degeneration and Atrophy of the Medulla, Pons, and Brainstem. (A) Nine years after symptom onset. (B) Fourteen years after symptom onset.
Table 1
Breakdown of Onset Age, ATXN3 Triplet Repeats, and Individual Elements of the SARA Score
| Patient | III-6 | IV-4 | IV-7 |
|---|---|---|---|
| ATXN CAG repeats | 73/22 | 77/22 | 75/22 |
| Onset age | 37 | 19 | 24 |
| Current age | 54 | 35 | 30 |
| Years since onset | 17 | 16 | 6 |
| Gait | 5 | 6 | 2 |
| Stance | 5 | 6 | 2 |
| Sitting | 0 | 1 | 0 |
| Speech disturbance | 3 | 2 | 1 |
| Finger chase | 1 | 2 | 1 |
| Nose–finger test | 0 | 0 | 0 |
| Fast alternating hand movements | 2 | 1 | 0.5 |
| Heel–shin slide | 2 | 3 | 0 |
| Total SARA | 18 | 21 | 6.5 |