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Article

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

Neurology - 23 Apr 2013

Gan-Or Ziv, Ozelius Laurie J, Bar-Shira Anat, Saunders-Pullman Rachel, Mirelman Anat, Kornreich Ruth, Gana-Weisz Mali, Raymond Deborah, Rozenkrantz Liron, Deik Andres, Gurevich Tanya, Gross Susan J, Schreiber-Agus Nicole, Giladi Nir, Bressman Susan B, Orr-Urtreger Avi

Abstract excerpt

OBJECTIVE: To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD). METHODS: Two PD patient cohorts of Ashkenazi Jewish...

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Source

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Identifiers

PMID: 23535491
DOI: 10.1212/WNL.0b013e31828f180e
PMCID: PMC3662322

Genes

SMPD1
HEXA
MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23535491-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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