Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Sep 2015
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.
Parkinson disease is noted for its association with mutations in GBA and the p.G2019S mutation in LRRK2. This study aimed to evaluate the frequency of Ashkenazi founder mutations in sphingomyelin phosphodiesterase 1 (SMPD1) in Ashkenazi patients diagnosed with Parkinson's disease (PD); and their impact on PD phenotypic expression. SMPD1 underlies the lysosomal storage disease - Niemann-Pick. ⋯ We maintain that disruptive mutations in SMPD1 constitute a risk factor for PD.