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. 2014 Mar 25;82(12):1065-7.
doi: 10.1212/WNL.0000000000000254. Epub 2014 Feb 21.

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia

Una-Marie Sheerin  1 , Susanne A Schneider, Lucinda Carr, Guenther Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W Wood, Kailash P Bhatia
Affiliations

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia

Una-Marie Sheerin et al. Neurology. .

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.

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Figures

Figure
Figure. Pedigree for family 1 (A) and family 2 (B)
An arrow indicates the proband in each family.
See this image and copyright information in PMC

References

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