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Fabry disease with atypical neurological presentation: report of a case.

The neurologist (2012-11-02)
Costanza Simoncini, Daniele Orsucci, Sara Gori, Filippo S Giorgi, Mirco Cosottini, Gabriele Siciliano, Michelangelo Mancuso
ABSTRACT

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. 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. Our case expands the neurological presentations associated with FD.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
α-Galactosidase from green coffee beans, ammonium sulfate suspension, ≥9 units/mg protein
Sigma-Aldrich
α-Galactosidase, positionally specific from Escherichia coli, recombinant, expressed in E. coli, buffered aqueous solution
Sigma-Aldrich
α-Galactosidase I, Alkaline from Cucumis melo

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