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Updated: May 2, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia
Una-Marie Sheerin1, Susanne A Schneider, Lucinda Carr
1From 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.
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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