期刊
JOURNAL OF PARKINSONS DISEASE
卷 11, 期 2, 页码 615-618出版社
IOS PRESS
DOI: 10.3233/JPD-202422
关键词
Parkinson's disease; Gaucher disease; allele penetrance; pedigrees
The study suggests that genetic modifiers may play a role in determining the risk of developing Parkinson's disease in carriers of GBA pathogenic variants, with multiple cases of PD in families serving as evidence for this.
Low penetrance of Parkinson's disease (PD) associated with GBA pathogenic variants indicates the presence of modifiers genes. Clusters of PD cases in certain families with GBA variants would serve as a strong evidence for the clinical relevance of such modifiers. We studied eight family trees of non-Parkinsonian, GBA-N370S homozygote, Gaucher probands, with multiple cases of PD. Differences in PD risk associated with different GBA variants were balanced by variant homozygosity. In these families, all PD cases stemmed from only one of the proband's parents. This observation provides a direct epidemiological evidence for genetic modifiers determining PD risk in GBA variant carriers.
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