Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

Anheim, M; Elbaz, A; Lesage, S; Durr, A; Condroyer, C; Viallet, F; Pollak, Pierre; Bonaïti, B; Bonaïti-Pellié, C; Brice, A

doi:10.1212/WNL.0b013e318245f476

Scientific article

English

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

ContributorsAnheim, M; Elbaz, A; Lesage, S; Durr, A; Condroyer, C; Viallet, F; Pollak, Pierre; Bonaïti, B; Bonaïti-Pellié, C; Brice, A

Published inNeurology, vol. 78, no. 6, p. 417-420

Publication date2012

Abstract

Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers.

Keywords

Adult
Aged
Female
Genetic Predisposition to Disease
Glucosylceramidase/genetics
Humans
Male
Middle Aged
Mutation
Parkinson Disease/genetics
Penetrance
Phenotype

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques

Research groups

Maladie de Parkinson (911)

Citation (ISO format)

ANHEIM, M et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. In: Neurology, 2012, vol. 78, n° 6, p. 417–420. doi: 10.1212/WNL.0b013e318245f476

Article (Published version)

Identifiers

PID : unige:33239
DOI : 10.1212/WNL.0b013e318245f476
PMID : 22282650

Journal ISSN0028-3878

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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

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