Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

Background: Repeat expansions in the spinocerebellar ataxia type 1 (SCA1) gene <i>ATXN1</i> increases the risk for amyotrophic lateral sclerosis (ALS), supporting a relationship between these disorders. We recently reported the co-existence, in a large SCA1 family, of a clinically defini...

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Bibliographic Details
Main Authors: Giovanna Morello, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavallaro
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Journal of Personalized Medicine
Subjects:
spinocerebellar ataxia
amyotrophic lateral sclerosis
SCA1-MN
NGS
customized aCGH
multi-omics
Online Access:https://www.mdpi.com/2075-4426/10/4/262

Internet

https://www.mdpi.com/2075-4426/10/4/262

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