Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

ABSTRACT:

Objective

Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C.

Methods

We identified 33 affected and 15 unaffected LRRK2 c.4321C>T (p.R1441C) mutation carriers through an international consortium originating from three continents. The age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis.

Results

The clinical presentation of Lrrk2 p.R1441C carriers was similar to sporadic PD and Lrrk2 p.G2019S parkinsonism. The mean age at onset for parkinsonism was 60 years, range 30-79 years; fewer than 20%

SUBMITTER: Haugarvoll K 

PROVIDER: S-EPMC3906630 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature