A novel rare variant of LRRK2 associated with familial Parkinson's disease: p.R1501W. (July 2020)

• Record Type: Journal Article
• Authors: Masuzugawa, Satoshi; Nishioka, Kenya; Imai, Yuzuru; Ogata, Jun; Shojima, Yuri; Li, Yuanzhe; Yoshino, Hiroyo; Hattori, Nobutaka
• Is Part Of: Parkinsonism & related disorders. Volume 76(2020)
• Page Start: 46
• Page End: 48
• Publication Date: 2020-07
• Subjects: Familial Parkinson's disease -- LRRK2 -- Genetics; PD Parkinson's disease -- LRRK2 leucine-rich repeat kinase 2; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2020.05.035
• Languages: English
• ISSNs: 1353-8020

Abstract

Highlights: We identified a novel rare variant, LRRK2 p.R1501W, located in the ROC domain. Patients harboring variant presented late-onset and a mild course of parkinsonism. The family harboring p.R1501W showed co-segregation with PD. Unlike p.R1441G, the kinase activity of p.R1501W was not elevated. Further studies are warranted on the pathogenicity of p.R1501W.