Article
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Orphanet journal of rare diseases - 26 Nov 2014
Schelleckes Michael, Lenders Malte, Guske Katrin, Schmitz Boris, Tanislav Christian, Ständer Sonja, Metze Dieter, Katona Istvan, Weis Joachim, Brand Stefan-Martin, Duning Thomas, Brand Eva
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCAGCC [rs5903184], IVS4-16A>G [rs2071397], and IVS6-22C>T [rs2071228] for potential neurological manifestations. METHODS...
Read the complete abstract on PubMed