Clinical variability in Chinese families with Parkinson disease and SNCA duplication, including the shortest 139kb duplication

SNCA gene copy number gain has been reported as a genetic cause for autosomal dominant Parkinson's disease (PD) [1], but it has not been described in Chinese patients. We identified two PD families (Fig. 1A and B) with SNCA duplications (1.04%) among 193 Chinese patients with familial PD: a 139kb duplication in family A and a 5.4Mb duplication in family B (Fig. 1C). The 139kb duplication is the smallest one so far reported [2]. The two index patients shared many clinical phenotypes including a positive family history, bradykinesia and rigidity, and non-motor symptoms such as REM sleep behavior disturbance (RBD), anosmia, constipation and autonomic dysfunction, and depression.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research