title: Fabry disease with atypical neurological presentation: report of a case.
abstract: BACKGROUND
  Fabry disease (FD) is a rare, X-linked lysosomal storage disorder with multiorgan involvement. FD is caused by a partial or total deficit of α-galactosidase A enzyme, which is responsible for the accumulation of glycosphingolipids in a variety of cell types. Neurological complications include central nervous system involvement with cerebrovascular disease, peripheral neuropathy, and autonomic dysfunction.
  
  
  METHODS
  We report the case of a 47-year-old man with an atypical neurological presentation of FD, characterized by 48-hour consciousness alteration with amnesia, resembling a long-lasting episode of transient global amnesia.
  
  
  CONCLUSIONS
  Our case expands the neurological presentations associated with FD.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Simoncini
authors.forename: Daniele
authors.initials: D
authors.lastname: Orsucci
authors.forename: Sara
authors.initials: S
authors.lastname: Gori
authors.forename: Filippo S
authors.initials: FS
authors.lastname: Giorgi
authors.forename: Mirco
authors.initials: M
authors.lastname: Cosottini
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
mesh_terms: D000328:Adult; D000647:Amnesia / Q000209:etiology*; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D057089:Pathology, Molecular; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D006028:Glycosphingolipids; C576330:GLA protein, human; D000519:alpha-Galactosidase