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Article

Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2020

Ji Shaozhen, Wang Chaodong, Qiao Hongwen, Gu Zhuqin, Gan-Or Ziv, Fon Edward A, Chan Piu

Abstract excerpt

BACKGROUND: Heterozygous mutations in the glucocerebrosidase gene (GBA) have been shown to be an important genetic risk factor for Parkinson's disease (PD) worldwide. However, the penetrance of GBA heterozygote for L444P, the common mutation for Asian population, is not known in older Chinese people. OBJECTIVES: To assess the conversion rate to PD in identified carriers of GBA L444P/R mutations in Chinese...

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PMID: 31912918
DOI: 10.1002/mds.27971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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