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Volumn 13, Issue 8, 2013, Pages

The association between ß-glucocerebrosidase mutations and parkinsonism

Author keywords

Dementia with Lewy bodies; Gaucher disease; GBA; Parkinson disease; Parkinsonism; Glucocerebrosidase

Indexed keywords

6 FLUORODOPA F 18; ALPHA SYNUCLEIN; BETA GLUCOCEREBROSIDASE; FLUORODEOXYGLUCOSE F 18; GLUCOSYLCERAMIDASE; UNCLASSIFIED DRUG;

EID: 84879369287     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0368-x     Document Type: Article
Times cited : (31)

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    • 22282650 10.1212/WNL.0b013e318245f476 1:CAS:528:DC%2BC38XitVSlu78%3D Although earlier epidemiological studies established GBA carriage as a risk factor for PD, the risk of developing PD for an individual carrier has remained relatively undefined; thus, genetic counseling for family members of GBA carriers with PD has remained challenging. In this study, the authors reviewed the pedigrees of 525 probands with familial PD, and screened a large number of family members, including those with and those without PD, for GBA mutations. Using this data, and using a model that assumes GBA is an autosomal dominant PD gene with incomplete penetrance, the authors calculated an age-related penetrance of PD in GBA carriers of 7.6% at age 50 years, 13.7% at age 60 years, 21.4% at age 70 years, and 29.7% at age 80 years
    • • Anheim M, Elbaz A, Lesage S, et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology. 2012;78:417-20. Although earlier epidemiological studies established GBA carriage as a risk factor for PD, the risk of developing PD for an individual carrier has remained relatively undefined; thus, genetic counseling for family members of GBA carriers with PD has remained challenging. In this study, the authors reviewed the pedigrees of 525 probands with familial PD, and screened a large number of family members, including those with and those without PD, for GBA mutations. Using this data, and using a model that assumes GBA is an autosomal dominant PD gene with incomplete penetrance, the authors calculated an age-related penetrance of PD in GBA carriers of 7.6% at age 50 years, 13.7% at age 60 years, 21.4% at age 70 years, and 29.7% at age 80 years. Although some concerns have been raised about the study's methodology and assumptions (see [75]), this study provides an important starting point for gathering information that will guide genetic testing and counseling in families with PD related to GBA mutations.
    • (2012) Neurology , vol.78 , pp. 417-420
    • Anheim, M.1    Elbaz, A.2    Lesage, S.3
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    • 84866256189 scopus 로고    scopus 로고
    • Penetrance of PD in glucocerebrosidase gene mutation carriers
    • 22753448 10.1212/01.wnl.0000416261.29035.4c
    • Sidransky E, Hart PS. Penetrance of PD in glucocerebrosidase gene mutation carriers. Neurology. 2012;79:106-7.
    • (2012) Neurology , vol.79 , pp. 106-107
    • Sidransky, E.1    Hart, P.S.2


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