Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

B.A. Hosler; G.A. Nicholson; P.C. Sapp; W. Chin; R.W. Orrell; J.S. De Belleroche; J. Esteban; L.J. Hayward; D. McKenna-Yasek; L. Yeung; A.K. Cherryson; J.E. Dench; S.D. Wilton; N.G. Laing; H.R. Horvitz; R.H. Brown

doi:10.1016/0960-8966(96)00353-7

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Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

Journal article

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Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

B.A. Hosler, G.A. Nicholson, P.C. Sapp, W. Chin, R.W. Orrell, J.S. De Belleroche, J. Esteban, L.J. Hayward, D. McKenna-Yasek, L. Yeung, …

Neuromuscular Disorders, Vol.6(5), pp.361-366

1996

DOI: https://doi.org/10.1016/0960-8966(96)00353-7

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Abstract

Autosomal dominant inheritance is exhibited by about 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by death of motor neurons in the brain and spinal cord. A subgroup of these familial cases are linked to mutations in the gene which codes for Cu/Zn superoxide dismutase (SOD1). We report three additional mutations occurring in the SOD1 gene in ALS patients and two single base pair variant changes. The single base pair change in an ALS family causes a glycine 93 to valine substitution, which is the fifth distinct amino acid change reported for the glycine 93 residue. One missense mutation in exon 5 would substitute neutral valine for the negatively-charged aspartate 124 (aspartate 124 to valine). An individual with an apparently sporadic case of ALS carries a three base pair deletion in exon 5 of the SOD1 gene. These three mutations bring to 38 the total number of distinct SOD1 mutations associated with familial ALS.

Details

Title: Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
Authors/Creators: B.A. Hosler (Author/Creator) - Massachusetts General Hospital
G.A. Nicholson (Author/Creator) - Concord Repatriation General Hospital
P.C. Sapp (Author/Creator) - Massachusetts General Hospital
W. Chin (Author/Creator) - Howard Hughes Medical Institute
R.W. Orrell (Author/Creator) - Charing Cross Hospital
J.S. De Belleroche (Author/Creator) - Charing Cross Hospital
J. Esteban (Author/Creator) - Massachusetts General Hospital
L.J. Hayward (Author/Creator) - Massachusetts General Hospital
D. McKenna-Yasek (Author/Creator) - Massachusetts General Hospital
L. Yeung (Author/Creator) - Concord Repatriation General Hospital
A.K. Cherryson (Author/Creator) - Concord Repatriation General Hospital
J.E. Dench (Author/Creator) - Royal Perth Hospital
S.D. Wilton (Author/Creator) - Centre for Neuromuscular and Neurological Disorders
N.G. Laing (Author/Creator) - UWA Centre for Medical Research
H.R. Horvitz (Author/Creator) - Concord Repatriation General Hospital
R.H. Brown (Author/Creator) - Massachusetts General Hospital
Publication Details: Neuromuscular Disorders, Vol.6(5), pp.361-366
Publisher: Elsevier BV
Identifiers: 991005542352707891
Copyright: 1996 Elsevier BV
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.765 ALS Mechanisms
Web Of Science research areas: Clinical Neurology; Neurosciences
ESI research areas: Neuroscience & Behavior