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Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis
Collette K. Hand, PhD;
Rebecca S. Devon, PhD;
Francois Gros-Louis, MSc;
Daniel Rochefort, MSc;
Jawad Khoris, MD;
Vincent Meininger, MD;
Jean-Pierre Bouchard, MD;
William Camu, MD, PhD;
Michael R. Hayden, MD, PhD;
Guy A. Rouleau, MD, PhD
Arch Neurol. 2003;60:1768-1771.
Background Mutations in the ALS2 gene cause juvenile-onset autosomal recessive amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia.
Objective To assess the role of ALS2 among more common forms of ALS.
Methods DNA from 95 unrelated familial, 95 unrelated sporadic, and 11 early-onset ALS patients was screened for mutations in ALS2 by denaturing high-performance liquid chromatography and direct sequencing of polymerase chain reaction–amplified fragments. Each variant identified was also analyzed among control subjects. All 34 exons of ALS2 plus the 5' and 3' untranslated region were screened.
Results We detected 23 novel sequence variants; however, none is disease-associated.
Conclusion Mutations of ALS2 are not a common cause of ALS.
From the Centre for Research in Neuroscience, McGill University, and Montréal General Hospital Research Institute, Montréal (Drs Hand and Rouleau and Messrs Gros-Louis and Rochefort), and Department of Neurology, Hôpital de l'Enfant Jesus, Quebec City (Dr Bouchard), Quebec; and Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, and Children and Women's Hospital, Vancouver (Drs Devon and Hayden); and ALS Center of Montpellier, Department of Clinical Neurophysiology, University Hospitals of Montpellier, Montpellier (Drs Khoris and Camu), and Service de Neurologie, Division Mazarin, Hôpital Pitie Salpetriere, Paris (Dr Meininger); France. Drs Hand and Devon contributed equally to this article. Dr Hand is now affiliated with the Department of Pathology, University College Cork, Cork, Ireland.
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
ADULT-ONSET PRIMARY LATERAL SCLEROSIS IS NOT ASSOCIATED WITH MUTATIONS IN THE ALS2 GENE
Brugman et al.
Neurology 2007;69:702-704.
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