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Neurology. 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.

Author information

1
From the Department of Molecular Neuroscience (U.-M.S.) and Sobell Department of Motor Neuroscience and Movement Disorders (M.S., K.P.B.), UCL Institute of Neurology, London, UK; University of Kiel (S.A.S., G.D., F.H.), Movement Disorders Clinic, Germany; Department of Paediatrics (L.C.), Great Ormond Street Hospital, London, UK; Second Department of Neurology (M.S.), University of Athens, Greece; and UCL Department of Molecular Neuroscience and UCL Genetics Institute (N.W.W.), University College London, UK.

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.

PMID:
24562058
PMCID:
PMC3962990
DOI:
10.1212/WNL.0000000000000254
[Indexed for MEDLINE]
Free PMC Article
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