Argentinean Initiative of Stroke in the Young and Fabry Disease (FD): Final results

REISIN R; MAZZIOTI JULIETA; LEON CEJAS LUCIANA; ROZENFELD, P.A

Congreso; American Academy of Neurology 68thAnnual Meeting; 2016

American Academy of Neurolog

OBJECTIVE: To evaluate the clinical characteristics of stroke in young adults in Argentina and to identify the frequency of FD in this population.BACKGROUND: Up to 10% of all strokes occur in young patients. FD is an underdiagnosed etiology of stroke in the young, but the frequency of this association is still controversial. There are no registries of young patients with stroke in Argentina and therefore the frequency of FD in this population has never been investigated.DESIGN/METHODS: This is a prospective, multicentric study of stroke and FD in young adults (18-55 years) in Argentina. Patients presented their stroke within 180 days. Stroke subtype was classified based on TOAST criteria. FD was diagnosed by measurement of alpha-galactosidase-A activity (males) and genetic studies (females)RESULTS: Since January 2011, 307 patients were enrolled ( men 53%, mean age: 41years). Ischemic strokes (IS) occurred in 89% of patients (infarcts 80%, 9% AIT) and hemorrhaghic strokes in 11% patients. Stroke subtypes were: large artery disease 13%, cardioembolism 7 %, small artery occlusion 14%, other defined etiology 23%, undetermined etiology 43%. All the males had normal enzymatic studies.Eighteen females had non pathogenic intronic variations: c.-10C>T, c.-12G>A or both. Two patients had the non pathogenic mutation D313Y, a third had the mutation S126G of unclear significance that we believe is not pathogenic and only one female had a clear pathogenic mutation P c.888G>A / p.Met296Ile /Exon 6This last patient had a father with stroke a paternal uncle with end stage renal failure but she had no other sign of FDCONCLUSIONS: FD was identified in only 0.3% of patients in this first Latin American study. A large number of non pathogenic mutations were present and it is essential that they should not be confused with pathogenic mutations to avoid unnecessary enzyme replacement treatment