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Article

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.

Parkinsonism & related disorders - 1 Sept 2015

Dagan E, Schlesinger I, Ayoub M, Mory A, Nassar M, Kurolap A, Peretz-Aharon J, Gershoni-Baruch R

Abstract excerpt

INTRODUCTION: 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....

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Identifiers

PMID: 26169695
DOI: 10.1016/j.parkreldis.2015.06.016

Genes

SMPD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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