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Article

Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2020

Santos-Mandujano Rosalía A, Ryan Natalie S, Chávez-Gutiérrez Lucía, Sánchez-Torres Carmen, Meraz-Ríos Marco Antonio

Abstract excerpt

Presenilin 1 gene (PSEN1) mutations are the most common cause of familial Alzheimer's disease (FAD). One of the most abundant FAD mutations, PSEN1 A431E, has been reported to be associated with spastic paraparesis in about half of its carriers, but the determining mechanisms of this phenotype are still unknown. In our study we characterized three A431E mutation carriers, one symptomatic and two asymptomatic, from...

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PMID: 31884479
DOI: 10.3233/JAD-190978

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