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Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals.

著者 Wang C , Cai Y , Gu Z , Ma J , Zheng Z , Tang BS , Xu Y , Zhou Y , Feng T , Wang T , Chen SD , Chan P ,
Neurobiol Aging.2013 Oct 3 ; ():.
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Department of Neurobiology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China; Department of Neurology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China; Key Labora

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Clinical profiles of Parkinson's disease (PD) related to LRRK2 (LRRK2-PD), and GBA (GBA-PD) genes have not been reported in Chinese individuals. In this study, we have investigated motor and non-motor aspects in 1638 Chinese PD patients who carried LRRK2 G2385R or R1628P (LRRK2-PD, n = 223), GBA L444P variant (GBA-PD, n = 49), or none of the variants (idiopathic PD [IPD], n = 1366). As a result, age at onset and motor and non-motor features of LRRK2-PD patients were similar to IPD patients except for milder non-motor symptoms. In contrast, GBA-PD patients had a significantly younger age at onset and higher Unified Parkinson's Disease Rating Scale scores than LRRK2-PD and IPD patients. In addition, postural instability and gait disorders, motor complications, cognitive decline, hallucination, sexual dysfunction, and constipation were more frequent in GBA-PD than in LRRK2-PD and IPD patients, and GBA-PD patients had a worse performance for social functioning and role-emotional scores. Our study represents the first large-scale clinical study of LRRK2-PD and GBA-PD in ethnic Chinese individuals. The data suggest that both LRRK2-PD and GBA-PD are similar to IPD, except for an earlier age at onset and relatively more common non-motor symptoms in GBA-PD patients. These findings strengthen our understanding of the clinical heterogeneity of PD, and may have implications for molecular classification of the disease.
PMID: 24095219 [PubMed - as supplied by publisher]
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