Clinical assessments of the affected members of the pedigree
| II:4 | II:5 | |
|---|---|---|
| Gait (0–8) | 7 | 7 |
| Stance (0–6) | 6 | 6 |
| Sitting (0–4) | 1 | 0 |
| Speech disturbance (0–6) | 3 | 2 |
| Finger chase (R+L)/2 (0-4) | 1 | 2 |
| Nose-finger test (R+L)/2 (0-4) | 1 | 0 |
| Fast alternating hand movements (R+L)/2 (0–4) | 3 | 3 |
| Heel-shin slide (R+L)/2 (0–4) | 2 | 2 |
| Total SARA score (0–40) | 24 | 22 |
To determine the severity of the patients, neurological examinations were performed based on the Scale for the Assessment and Rating of Ataxia (SARA). In brief, the SARA instrument consists of eight test components: (1) gait; (2) stance; (3) sitting; (4) speech disturbance; (5) finger chase; (6) nose-finger test; (7) fast alternating hand movement and (8) heel-shin slide. A good correlation between SARA results and spinocerebellar ataxia (SCA) disease stages has been validated in a large-scale study by EUROSCA. SARA is now widely accepted as a clinical assessment scale for SCAs and has also been used as a reliable measurement instrument for the severity of SCAs in the Asian population, including in China. The higher the SARA score, the more severe the ataxia symptoms the patient presents.