Article
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2023
Perillo Sandra, Palmieri Gianluigi Rosario, Del Moral Maria Olmedillas, De Michele Giovanna, Giglio Augusta, Cuomo Nunzia, Pane Chiara, Bauer Peter, De Michele Giuseppe, De Rosa Anna
Abstract excerpt
BACKGROUND: So far, mutations in genes encoding lysosomal enzymes have been associated with Parkinson's disease (PD). Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A (α-GAL) deficiency, leading to deposition of globotriaosylceramide in the nervous system and other organs. We aimed to screen for FD a case series of PD patients from Southern Italy and to review the...
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