Table 1 Clinical characteristics of the affected members of the pedigree
From: The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
Characteristic | Patient | ||||||
|---|---|---|---|---|---|---|---|
III-4 | III-9 | III-10 | III-11 | III-15 | III-18 | IV-4 | |
Sex | F | F | M | M | M | M | M |
Age at onset, yr | 57 | 55 | 29 | 50 | 53 | 31 | 48 |
Age at last evaluation, yr | 64 | 62 | 53 | 61 | 58 | 51 | 50 |
Age at death, yr | 70 | 64 | 56 | ─ | ─ | ─ | ─ |
Bradykinesia | Y | Y | Y | Y | Y | Y | Y |
Rigidity | Y | Y | Y | Y | Y | Y | Y |
Resting tremor | Y | N | Y | Y | Y | Y | Y |
Postural instability | Y | N | Y | Y | N | Y | Y |
Unilateral onset | Y | Y | Y | Y | Y | Y | Y |
Levodopa response | Y | Y | Y | Y | Y | Y | NT |
Levodopa-induced dyskinesia | N | Y | Y | Y | N | Y | ─ |
Mild, lifelong intellectual disability | N | N | N | N | Y | N | Y |
Hoehn and Yahr stagea | 4 | 3 | 4 | 2.5 | 2 | 5 | 2.5 |
MDS-UPDRS III scorea | NA | 24 | NA | 26 | 19 | 52 | 11 |