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

Parkinson's disease (PD) is the second most common neurodegenerative disorder, and several familial PD-associated pathogenic genes have been identified through robust genetic studies [1]. Particularly, seven mutations of the leucine-rich repeat kinase 2 gene (LRRK2; p.N1437H, p.R1441C/G/H, p.Y1699C, p.G2019S, and p.I2020T) are thought to be pathogenic. Herein, we identified a novel rare variant, LRRK2 c.4501C   >  T (rs780894154), p.R1501W (Fig. 1A), located in the Ras-of-complex (ROC) domain, cosegregating in a family (Fig.

Source: Parkinsonism and Related Disorders - May 31, 2020 Category: Neurology Authors: Satoshi Masuzugawa, Kenya Nishioka, Yuzuru Imai, Jun Ogata, Yuri Shojima, Yuanzhe Li, Hiroyo Yoshino, Nobutaka Hattori Tags: Correspondence Source Type: research