Article
Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.
Neurobiology of aging - 1 Apr 2014
Li Yuanzhe, Sekine Takeshi, Funayama Manabu, Li Lin, Yoshino Hiroyo, Nishioka Kenya, Tomiyama Hiroyuki, Hattori Nobutaka
Abstract excerpt
The glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD). We sequenced entire coding exons and exon/intron boundaries of GBA in 147 Japanese familial PD (FPD) patients from 144 families and 100 unrelated control subjects. Twenty-seven of 144 (18.8%) of index patients were heterozygous for known Gaucher disease mutations, suggesting that GBA heterozygous mutations are strongly...
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