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Article

SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease.

Parkinsonism & related disorders - 1 Jan 2017

Mao Cheng-Yuan, Yang Jing, Wang Hui, Zhang Shu-Yu, Yang Zhi-Hua, Luo Hai-Yang, Li Fang, Shi Mengmeng, Liu Yu-Tao, Zhuang Zheng-Ping, Du Pan, Wang Yao-He, Shi Chang-He, Xu Yu-Ming

Abstract excerpt

INTRODUCTION: A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population. Several other studies about the association between SMPD1 variants and PD were performed afterward in other populations. However,...

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Identifiers

PMID: 27814975
DOI: 10.1016/j.parkreldis.2016.10.014

Genes

SMPD1

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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