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ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

ABSTRACT:

Objective

To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.

Methods

A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used.

Results

Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) (ALS2) gene.

Conclusions

We report generalized dystonia and cerebellar signs in association with ALS2-related disease. We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype.

SUBMITTER: Sheerin UM

PROVIDER: S-EPMC3962990 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Sheerin Una-Marie UM Schneider Susanne A SA Carr Lucinda L Deuschl Guenther G Hopfner Franziska F Stamelou Maria M Wood Nicholas W NW Bhatia Kailash P KP

Neurology 20140221 12

<h4>Objective</h4>To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.<h4>Methods</h4>A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used.<h4>Results</h4>Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral s ...[more]

PMID: 24562058

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