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Publication Detail
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Sheerin U-M, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP
  • Publication date:
    25/03/2014
  • Pagination:
    1065, 1067
  • Journal:
    Neurology
  • Volume:
    82
  • Issue:
    12
  • Status:
    Published
  • Country:
    United States
  • PII:
    WNL.0000000000000254
  • Language:
    eng
  • Keywords:
    Adolescent, Adult, Amyotrophic Lateral Sclerosis, Carrier Proteins, Child, Consanguinity, Dystonic Disorders, Exome, Female, Genes, Recessive, Guanine Nucleotide Exchange Factors, Homozygote, Humans, Male, Mutation, Pedigree, Phenotype, Proteins, Sequence Analysis
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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Clinical and Movement Neurosciences
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