Article
Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the VAPB gene in Southern Brazil.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020
Trilico Matheus Luis Castelan, Lorenzoni Paulo José, Kay Cláudia Suemi Kamoi, Ducci Renata Dal Pra, Fustes Otto Jesus Hernandez, Werneck Lineu Cesar, Scola Rosana Herminia
Abstract excerpt
Objective: Amyotrophic lateral sclerosis (ALS) is a rare worldwide heterogeneous neurodegenerative disease with sporadic and familial (FALS) forms. A rare autosomal dominant subtype of FALS was identified in a Brazilian family, classified as ALS type 8 (ALS8) linked to the VAPB gene. The aim of our study was to analyze a series of ALS8 patients from unrelated families in order to further characterize the disease....
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