Table 1 Clinical features
From: Parkinson’s disease associated with pure ATXN10 repeat expansion
III.2 | III.3 | III.6 | III.7 | III.8 (Proband) | III.9 | |
|---|---|---|---|---|---|---|
Lab ID | PI-2568 | PI-2569 | PI-2570 | PI-1202 | PI-1124 | PI-2571 |
Gender | F | F | F | M | M | F |
ATXN10 repeat (SMRT/Cas9 capture)* | 1315 | 1363 | 1076 | 1363 | 1304 | 1080 |
Age at onset (years) | 35 | 48 | unaffected | 48 | 38 | 37 |
Onset of seizures (years) | 60 | 57 | – | 53 | – | – |
Current age (years) | 71 | 68 | 61 | 65 | 57 | 53 |
Duration of disease (years) | 36 | 20 | – | 17 | 19 | 16 |
Seizures | + | + | – | + | – | – |
Gait ataxia | + | + | – | + | – | + |
Intention tremor | + | + | – | – | + | – |
Dysarthria | + | + | – | + | – | + |
Dysmetria | + | + | – | + | – | + |
Dysdiadochokinesia | + | + | – | – | + | + |
Nystagmus | + | + | – | + | – | + |
Ocular dyskinesia | + | + | – | + | – | – |
Hypotonia | – | – | – | – | – | – |
Hyperreflexia | – | – | – | + | – | – |
Babinski’s sign | – | – | – | – | – | – |
Leg spasticity | – | – | – | – | – | – |
Aggressiveness | + | + | – | – | – | + |
Depression | + | + | – | + | + | + |
MoCA | 9/30 | 2/30 | 29/30 | U | U | 25/30 |
SARA | 23.5/40 | 24.5/40 | 0/40 | U | 6/40 | 16/40 |
B-SIT (% tile) | NP | NP | 27% | U | 29% | 20% |
B-SIT (category) | NP | NP | Normal | U | Normal | Normal |
