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Neurological effects of GBA mutations.

著者 Mullin S , Hughes D , Mehta A , Schapira AHV
Eur J Neurol.2018 Oct 13 ; ():.
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The association between Gaucher disease (GD) and PD (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 which glucosylceramide, the sphingolipid substrate of the glucocerebrosidase enzyme (GCase), accumulates in visceral organs leading to a number of clinical phenotypes. In the bi-allelic or heterozygous state, GBA mutations increase the risk for PD. Mutations of the GBA allele are the most significant genetic risk factor for idiopathic PD, found in for 5-20% of idiopathic PD cases, depending on ethnicity. We have reviewed the neurological consequences of GBA mutations and discuss the proposition that GBA mutations result in a disparate but connected range of clinically and pathologically related neurological features. We discuss the literature relating to the clinical, biochemical and genetic basis of GBA PD, type 1 Gaucher disease and neuronopathic Gaucher disease, highlighting commonalities and distinctions between them. We consider whether there is evidence for a unifying disease mechanism underlying them. This article is protected by copyright. All rights reserved.
PMID: 30315684 [PubMed - as supplied by publisher]
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