Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study

Background Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%–30%), depends on the population s...

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Published in:Movement disorders 2020-11, Vol.35 (11), p.2111-2114
Main Authors: Balestrino, Roberta, Tunesi, Sara, Tesei, Silvana, Lopiano, Leonardo, Zecchinelli, Anna L., Goldwurm, Stefano
Format: Article
Language:English
Subjects:
Cohort analysis
Cohort Studies
Gaucher's disease
GBA
genetics
glucocerebrosidase
Glucosylceramidase
Glucosylceramidase - genetics
Humans
Movement disorders
Mutation
Mutation - genetics
Neurodegenerative diseases
Parkinson Disease - genetics
Parkinson's disease
Penetrance
Population studies
Risk factors
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Summary:Background Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%–30%), depends on the population studied, and has only been assessed in Gaucher disease or familial PD. The aim of this study was to assess the penetrance of glucocerebrosidase mutations in PD in unselected PD patients. Methods The penetrance of glucocerebrosidase mutations was estimated using the kin‐cohort method. Results Data on family history were available for 63 of 123 PD glucocerebrosidase mutation carriers, identified among 2843 unrelated consecutive PD patients. Three hundred eighty‐one first‐degree relatives were analyzed. The risk of developing PD was 10% at 60 years, 16% at 70 years, and 19% at 80 years. Conclusions The estimated penetrance of glucocerebrosidase mutations in unselected PD patients is higher than that estimated in Gaucher disease cohorts and lower than that estimated in familial PD cohorts. © 2020 International Parkinson and Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.28200