Table 1.
Demographic and symptom data of ChAc group. Patients 1–7 correspond with patients 1–7 from (Huppertz et al. 2008). Patient 9 was described in (Robertson et al. 2008) and patient 11 in (Rodrigues et al. 2008).
| Age at scan | Gender | Disease Duration (years) | Diagnostic Method* | |
|---|---|---|---|---|
| P1 | 30 | F | 6 | VPS13A |
| P2 | 42 | M | 18 | VPS13A |
| P3 | 35 | M | 8 | VPS13A |
| P4 | 26 | M | 6 | VPS13A |
| P5 | 36 | M | 7 | VPS13A |
| P6 | 40 | F | 18 | VPS13A |
| P7 | 44 | M | 7 | VPS13A |
| P8 | 36 | M | 5 | Chorein |
| P9 | 38 | F | 17 | Chorein |
| P10 | 40 | M | 11 | Chorein |
| P11 | 59 | F | 30 | Chorein |
| P12 | 42 | F | 9 | Chorein |
| P13 | 46 | F | 12 | Chorein |
| 39.07±7.92 | (7M/6F) | 12.57±6.87 |
*
”VPS13A” indicates that mutation was found on genetic screening. “Chorein” indicates that diagnosis was made by Western blot.