Article
Clinical heterogeneity of the LRRK2 G2019S mutation.
Archives of neurology - 1 Sept 2006
Papapetropoulos Spiridon, Singer Carlos, Ross Owen A, Toft Mathias, Johnson Joseph L, Farrer Matthew J, Mash Deborah C
Abstract excerpt
BACKGROUND: Several pathogenic mutations have been reported in the leucine-rich repeat kinase 2 gene (LRRK2) that cause parkinsonism. The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease. OBJECTIVE: To observe the clinical heterogeneity presented by LRRK2 kinase mutation carriers. DESIGN, SETTING, AND PARTICIPANTS:...
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