期刊
SEMINARS IN NEUROLOGY
卷 37, 期 2, 页码 135-146出版社
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0037-1601567
关键词
Parkinson's disease; genetics; LRRK2; SNCA; VPS35; Parkin; PINK1; DJ1; GBA
资金
- Edmond J. Safra Fellowship in Movement Disorders through the Michael J. Fox Foundation for Parkinson's Research
One of the greatest advances in Parkinson's disease (PD) research in the past two decades has been a better understanding of PD genetics. Of the many candidate genes investigated, the best studied include LRRK2, SNCA, VPS35, Parkin, PINK1, and DJ1. The authors review the key clinical features of these monogenic forms, as well as for the prevalent risk factor gene, GBA, including the phenotype, clinical course, and treatment response. They also outline areas for future investigation: longitudinal studies of PD's clinical course, the identification of its premotor manifestations, and its specific mechanisms of pathogenicity.
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