Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community‐Based 10‐Year Longitudinal Study
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DOI: 10.1002/mds.27971
Abstract: Heterozygous mutations in the glucocerebrosidase gene (GBA) have been shown to be an important genetic risk factor for Parkinson's disease (PD) worldwide. However, the penetrance of GBA heterozygote for L444P, the common mutation for Asian… read more here.
Keywords: glucocerebrosidase gene; decreased penetrance; parkinson disease;
Neurological effects of glucocerebrosidase gene mutations
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DOI: 10.1111/ene.13837
Abstract: The association between Gaucher disease (GD) and Parkinson disease (PD) has been described for almost two decades. In the biallelic state (homozygous or compound heterozygous) mutations in the glucocerebrosidase gene (GBA) may cause GD, in… read more here.
Keywords: gba mutations; glucocerebrosidase gene; effects glucocerebrosidase; neurological effects ... See more keywords
Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.842498
Abstract: Evidence from clinical practice suggests that PD patients with the Glucocerebrosidase gene mutations (GBA-PD) are characterized by more severe dysautonomic symptoms than patients with idiopathic PD (iPD). Therefore, an accurate assessment of cardiovascular autonomic control… read more here.
Keywords: gba; autonomic control; gene mutations; glucocerebrosidase gene ... See more keywords