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Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

Published online by Cambridge University Press:  18 September 2015

Y. Boukaftane ,
J. Khoris ,
B. Moulard ,
F. Salachas ,
V. Meininger ,
A. Malafosse ,
W. Camu  and
G.A. Rouleau
Y. Boukaftane
Affiliation:
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Canada
J. Khoris
Affiliation:
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Canada
B. Moulard
Affiliation:
Laboratoire de Médecine Expérimentale, Institut de Biologie, Montpelier, France
F. Salachas
Affiliation:
Service de Neurologie, division Mazarin, Hôpital de la Salpétrière, Paris, France
V. Meininger
Affiliation:
Service de Neurologie, division Mazarin, Hôpital de la Salpétrière, Paris, France
A. Malafosse
Affiliation:
Division de Neuropsychiatrie, Hôpital Belle-Idée, Genève, Suisse,
W. Camu
Affiliation:
Département de physiopathologie Neuromusculaire, Institut de Biologie, Montpelier, France
G.A. Rouleau*
Affiliation:
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Canada
*
Rm L7 224, Department of Neurology, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec, Canada, H3G 1A4
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Abstract:

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SODl) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SODl mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.

Type
Expedited Publication
Information
Canadian Journal of Neurological Sciences , Volume 25 , Issue 3 , August 1998 , pp. 192 - 196
Copyright
Copyright © Canadian Neurological Sciences Federation 1998

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