Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : Evidence for a linked protective factor
Identifieur interne : 006288 ( PascalFrancis/Checkpoint ); précédent : 006287; suivant : 006289Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : Evidence for a linked protective factor
Auteurs : A. Al-Chalabi [Royaume-Uni] ; P. M. Andersen [Suède] ; B. Chioza [Royaume-Uni] ; C. Shaw [Royaume-Uni] ; P. C. Sham [Royaume-Uni] ; W. Robberecht [Belgique] ; G. Matthijs [Belgique] ; W. Camu [France] ; S. L. Marklund [Suède] ; L. Forsgren [Suède] ; G. Rouleau [Canada] ; N. G. Laing [Australie] ; P. V. Hurse [Australie] ; T. Siddique [États-Unis] ; P. N. Leigh [Royaume-Uni] ; J. F. Powell [Royaume-Uni]Source :
- Human molecular genetics [ 0964-6906 ] ; 1998.
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- topic : Homme.
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Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase (SOD1), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic gain of function but the mechanism is unknown. There are >60 known SODI mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive. D90A pedigrees with dominant inheritance have now been reported and this apparent contradiction needs to be explained. We performed a worldwide haplotype study on 28 D90A pedigrees using six highly polymorphic microsatellite markers. We now show that all 20 recessive families share the same founder (α = 0.999), regardless of geographical location, whereas several founders exist for the eight dominant families (α = 0.385). This finding confirms that D9OA can act in a dominant fashion in keeping with all other SOD1 mutations, but that on one occasion, a new instance of this mutation has been recessive. We propose a tightly linked protective factor which modifies the toxic effect of mutant SOD1 in recessive families.
Affiliations:
- Australie, Belgique, Canada, France, Royaume-Uni, Suède, États-Unis
- Languedoc-Roussillon, Occitanie (région administrative), Province du Brabant flamand, Québec
- Louvain, Montpellier, Montréal
- Université McGill
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : Evidence for a linked protective factor</title><author><name sortKey="Al Chalabi, A" sort="Al Chalabi, A" uniqKey="Al Chalabi A" first="A." last="Al-Chalabi">A. Al-Chalabi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Andersen, P M" sort="Andersen, P M" uniqKey="Andersen P" first="P. M." last="Andersen">P. M. Andersen</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>901 85 Umea</wicri:noRegion></affiliation></author><author><name sortKey="Chioza, B" sort="Chioza, B" uniqKey="Chioza B" first="B." last="Chioza">B. Chioza</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Shaw, C" sort="Shaw, C" uniqKey="Shaw C" first="C." last="Shaw">C. Shaw</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Sham, P C" sort="Sham, P C" uniqKey="Sham P" first="P. C." last="Sham">P. C. Sham</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Robberecht, W" sort="Robberecht, W" uniqKey="Robberecht W" first="W." last="Robberecht">W. Robberecht</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, University Hospital Gasthuisberg</s1><s2>3000 Leuven</s2><s3>BEL</s3><sZ>6 aut.</sZ></inist:fA14><country>Belgique</country><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Matthijs, G" sort="Matthijs, G" uniqKey="Matthijs G" first="G." last="Matthijs">G. Matthijs</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center of Human Genetics</s1><s2>Leuven</s2><s3>BEL</s3><sZ>7 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Center of Human Genetics</wicri:noRegion></affiliation></author><author><name sortKey="Camu, W" sort="Camu, W" uniqKey="Camu W" first="W." last="Camu">W. Camu</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Service de Neurologie B, Hôpital Gui de Chauliac</s1><s2>34295 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>34295 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Marklund, S L" sort="Marklund, S L" uniqKey="Marklund S" first="S. L." last="Marklund">S. L. Marklund</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Clinical Chemistry, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>9 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>901 85 Umea</wicri:noRegion></affiliation></author><author><name sortKey="Forsgren, L" sort="Forsgren, L" uniqKey="Forsgren L" first="L." last="Forsgren">L. Forsgren</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>901 85 Umea</wicri:noRegion></affiliation></author><author><name sortKey="Rouleau, G" sort="Rouleau, G" uniqKey="Rouleau G" first="G." last="Rouleau">G. Rouleau</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Centre for Research in Neuroscience, McGill University</s1><s2>Montreal</s2><s3>CAN</s3><sZ>11 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region><settlement type="city">Montréal</settlement></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Laing, N G" sort="Laing, N G" uniqKey="Laing N" first="N. G." last="Laing">N. G. Laing</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia</s1><s2>Nedlands, WA 6001</s2><s3>AUS</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Nedlands, WA 6001</wicri:noRegion></affiliation></author><author><name sortKey="Hurse, P V" sort="Hurse, P V" uniqKey="Hurse P" first="P. V." last="Hurse">P. V. Hurse</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia</s1><s2>Nedlands, WA 6001</s2><s3>AUS</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Nedlands, WA 6001</wicri:noRegion></affiliation></author><author><name sortKey="Siddique, T" sort="Siddique, T" uniqKey="Siddique T" first="T." last="Siddique">T. Siddique</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurology, Northwestern University</s1><s2>Evanston, IL</s2><s3>USA</s3><sZ>14 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Evanston, IL</wicri:noRegion></affiliation></author><author><name sortKey="Leigh, P N" sort="Leigh, P N" uniqKey="Leigh P" first="P. N." last="Leigh">P. N. Leigh</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Powell, J F" sort="Powell, J F" uniqKey="Powell J" first="J. F." last="Powell">J. F. Powell</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">99-0094392</idno><date when="1998">1998</date><idno type="stanalyst">PASCAL 99-0094392 INIST</idno><idno type="RBID">Pascal:99-0094392</idno><idno type="wicri:Area/PascalFrancis/Corpus">006464</idno><idno type="wicri:Area/PascalFrancis/Curation">006B90</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">006288</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">006288</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : Evidence for a linked protective factor</title><author><name sortKey="Al Chalabi, A" sort="Al Chalabi, A" uniqKey="Al Chalabi A" first="A." last="Al-Chalabi">A. Al-Chalabi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Andersen, P M" sort="Andersen, P M" uniqKey="Andersen P" first="P. M." last="Andersen">P. M. Andersen</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>901 85 Umea</wicri:noRegion></affiliation></author><author><name sortKey="Chioza, B" sort="Chioza, B" uniqKey="Chioza B" first="B." last="Chioza">B. Chioza</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Shaw, C" sort="Shaw, C" uniqKey="Shaw C" first="C." last="Shaw">C. Shaw</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Sham, P C" sort="Sham, P C" uniqKey="Sham P" first="P. C." last="Sham">P. C. Sham</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Robberecht, W" sort="Robberecht, W" uniqKey="Robberecht W" first="W." last="Robberecht">W. Robberecht</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, University Hospital Gasthuisberg</s1><s2>3000 Leuven</s2><s3>BEL</s3><sZ>6 aut.</sZ></inist:fA14><country>Belgique</country><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Matthijs, G" sort="Matthijs, G" uniqKey="Matthijs G" first="G." last="Matthijs">G. Matthijs</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center of Human Genetics</s1><s2>Leuven</s2><s3>BEL</s3><sZ>7 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Center of Human Genetics</wicri:noRegion></affiliation></author><author><name sortKey="Camu, W" sort="Camu, W" uniqKey="Camu W" first="W." last="Camu">W. Camu</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Service de Neurologie B, Hôpital Gui de Chauliac</s1><s2>34295 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>34295 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Marklund, S L" sort="Marklund, S L" uniqKey="Marklund S" first="S. L." last="Marklund">S. L. Marklund</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Clinical Chemistry, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>9 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>901 85 Umea</wicri:noRegion></affiliation></author><author><name sortKey="Forsgren, L" sort="Forsgren, L" uniqKey="Forsgren L" first="L." last="Forsgren">L. Forsgren</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>901 85 Umea</wicri:noRegion></affiliation></author><author><name sortKey="Rouleau, G" sort="Rouleau, G" uniqKey="Rouleau G" first="G." last="Rouleau">G. Rouleau</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Centre for Research in Neuroscience, McGill University</s1><s2>Montreal</s2><s3>CAN</s3><sZ>11 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region><settlement type="city">Montréal</settlement></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Laing, N G" sort="Laing, N G" uniqKey="Laing N" first="N. G." last="Laing">N. G. Laing</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia</s1><s2>Nedlands, WA 6001</s2><s3>AUS</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Nedlands, WA 6001</wicri:noRegion></affiliation></author><author><name sortKey="Hurse, P V" sort="Hurse, P V" uniqKey="Hurse P" first="P. V." last="Hurse">P. V. Hurse</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia</s1><s2>Nedlands, WA 6001</s2><s3>AUS</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Nedlands, WA 6001</wicri:noRegion></affiliation></author><author><name sortKey="Siddique, T" sort="Siddique, T" uniqKey="Siddique T" first="T." last="Siddique">T. Siddique</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurology, Northwestern University</s1><s2>Evanston, IL</s2><s3>USA</s3><sZ>14 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Evanston, IL</wicri:noRegion></affiliation></author><author><name sortKey="Leigh, P N" sort="Leigh, P N" uniqKey="Leigh P" first="P. N." last="Leigh">P. N. Leigh</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Powell, J F" sort="Powell, J F" uniqKey="Powell J" first="J. F." last="Powell">J. F. Powell</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Hill, London SE5 8AF</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Human molecular genetics</title><title level="j" type="abbreviated">Hum. mol. genet.</title><idno type="ISSN">0964-6906</idno><imprint><date when="1998">1998</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human molecular genetics</title><title level="j" type="abbreviated">Hum. mol. genet.</title><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amyotrophic lateral sclerosis</term><term>Chromosome G21</term><term>Family study</term><term>Founder effect</term><term>Gene</term><term>Genetic disease</term><term>Genetic mapping</term><term>Haplotype</term><term>Human</term><term>Linkage</term><term>Mutation</term><term>Superoxide dismutase</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Homme</term><term>Superoxide dismutase</term><term>Gène</term><term>Mutation</term><term>Effet fondateur</term><term>Haplotype</term><term>Etude familiale</term><term>Chromosome G21</term><term>Liaison génétique</term><term>Carte génétique</term><term>Sclérose latérale amyotrophique</term><term>Maladie héréditaire</term><term>Association génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase (SOD1), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic gain of function but the mechanism is unknown. There are >60 known SODI mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive. D90A pedigrees with dominant inheritance have now been reported and this apparent contradiction needs to be explained. We performed a worldwide haplotype study on 28 D90A pedigrees using six highly polymorphic microsatellite markers. We now show that all 20 recessive families share the same founder (α = 0.999), regardless of geographical location, whereas several founders exist for the eight dominant families (α = 0.385). This finding confirms that D9OA can act in a dominant fashion in keeping with all other SOD1 mutations, but that on one occasion, a new instance of this mutation has been recessive. We propose a tightly linked protective factor which modifies the toxic effect of mutant SOD1 in recessive families.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0964-6906</s0></fA01><fA03 i2="1"><s0>Hum. mol. genet.</s0></fA03><fA05><s2>7</s2></fA05><fA06><s2>13</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : Evidence for a linked protective factor</s1></fA08><fA11 i1="01" i2="1"><s1>AL-CHALABI (A.)</s1></fA11><fA11 i1="02" i2="1"><s1>ANDERSEN (P. M.)</s1></fA11><fA11 i1="03" i2="1"><s1>CHIOZA (B.)</s1></fA11><fA11 i1="04" i2="1"><s1>SHAW (C.)</s1></fA11><fA11 i1="05" i2="1"><s1>SHAM (P. C.)</s1></fA11><fA11 i1="06" i2="1"><s1>ROBBERECHT (W.)</s1></fA11><fA11 i1="07" i2="1"><s1>MATTHIJS (G.)</s1></fA11><fA11 i1="08" i2="1"><s1>CAMU (W.)</s1></fA11><fA11 i1="09" i2="1"><s1>MARKLUND (S. L.)</s1></fA11><fA11 i1="10" i2="1"><s1>FORSGREN (L.)</s1></fA11><fA11 i1="11" i2="1"><s1>ROULEAU (G.)</s1></fA11><fA11 i1="12" i2="1"><s1>LAING (N. G.)</s1></fA11><fA11 i1="13" i2="1"><s1>HURSE (P. V.)</s1></fA11><fA11 i1="14" i2="1"><s1>SIDDIQUE (T.)</s1></fA11><fA11 i1="15" i2="1"><s1>LEIGH (P. N.)</s1></fA11><fA11 i1="16" i2="1"><s1>POWELL (J. F.)</s1></fA11><fA14 i1="01"><s1>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park</s1><s2>Hill, London SE5 8AF</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, University Hospital Gasthuisberg</s1><s2>3000 Leuven</s2><s3>BEL</s3><sZ>6 aut.</sZ></fA14><fA14 i1="04"><s1>Center of Human Genetics</s1><s2>Leuven</s2><s3>BEL</s3><sZ>7 aut.</sZ></fA14><fA14 i1="05"><s1>Service de Neurologie B, Hôpital Gui de Chauliac</s1><s2>34295 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Clinical Chemistry, Umea University</s1><s2>901 85 Umea</s2><s3>SWE</s3><sZ>9 aut.</sZ></fA14><fA14 i1="07"><s1>Centre for Research in Neuroscience, McGill University</s1><s2>Montreal</s2><s3>CAN</s3><sZ>11 aut.</sZ></fA14><fA14 i1="08"><s1>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia</s1><s2>Nedlands, WA 6001</s2><s3>AUS</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Neurology, Northwestern University</s1><s2>Evanston, IL</s2><s3>USA</s3><sZ>14 aut.</sZ></fA14><fA20><s1>2045-2050</s1></fA20><fA21><s1>1998</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>22540</s2><s5>354000073099180070</s5></fA43><fA44><s0>0000</s0><s1>© 1999 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>28 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>99-0094392</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i2="1"><s0>Human molecular genetics</s0></fA64><fA66 i1="01"><s0>GBR</s0></fA66><fC01 i1="01" l="ENG"><s0>Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase (SOD1), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic gain of function but the mechanism is unknown. There are >60 known SODI mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive. D90A pedigrees with dominant inheritance have now been reported and this apparent contradiction needs to be explained. We performed a worldwide haplotype study on 28 D90A pedigrees using six highly polymorphic microsatellite markers. We now show that all 20 recessive families share the same founder (α = 0.999), regardless of geographical location, whereas several founders exist for the eight dominant families (α = 0.385). This finding confirms that D9OA can act in a dominant fashion in keeping with all other SOD1 mutations, but that on one occasion, a new instance of this mutation has been recessive. We propose a tightly linked protective factor which modifies the toxic effect of mutant SOD1 in recessive families.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Homme</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Human</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Hombre</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Superoxide dismutase</s0><s2>FE</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Superoxide dismutase</s0><s2>FE</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Superoxide dismutase</s0><s2>FE</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Gène</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Gene</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Gen</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Effet fondateur</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Founder effect</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Efecto fundador</s0><s5>05</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Haplotype</s0><s5>06</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Haplotype</s0><s5>06</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Haplotipo</s0><s5>06</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Etude familiale</s0><s5>07</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Family study</s0><s5>07</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Estudio familiar</s0><s5>07</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Chromosome G21</s0><s5>08</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Chromosome G21</s0><s5>08</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Cromosoma G21</s0><s5>08</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Liaison génétique</s0><s5>09</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>Linkage</s0><s5>09</s5></fC03><fC03 i1="09" i2="X" l="SPA"><s0>Ligamiento genético</s0><s5>09</s5></fC03><fC03 i1="10" i2="X" l="FRE"><s0>Carte génétique</s0><s5>10</s5></fC03><fC03 i1="10" i2="X" l="ENG"><s0>Genetic mapping</s0><s5>10</s5></fC03><fC03 i1="10" i2="X" l="SPA"><s0>Mapa genético</s0><s5>10</s5></fC03><fC03 i1="11" i2="X" l="FRE"><s0>Sclérose latérale amyotrophique</s0><s5>15</s5></fC03><fC03 i1="11" i2="X" l="ENG"><s0>Amyotrophic lateral sclerosis</s0><s5>15</s5></fC03><fC03 i1="11" i2="X" l="SPA"><s0>Esclerosis lateral amiotrófica</s0><s5>15</s5></fC03><fC03 i1="12" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>65</s5></fC03><fC03 i1="12" i2="X" l="ENG"><s0>Genetic disease</s0><s5>65</s5></fC03><fC03 i1="12" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>65</s5></fC03><fC03 i1="13" i2="X" l="FRE"><s0>Association génétique</s0><s4>INC</s4><s5>91</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Oxidoreductases</s0><s2>FE</s2></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Oxidoreductases</s0><s2>FE</s2></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Oxidoreductases</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>58</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>58</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>58</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>59</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>59</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>59</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Moelle épinière pathologie</s0><s5>60</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Spinal cord disease</s0><s5>60</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Médula espinal patología</s0><s5>60</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>61</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>61</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>61</s5></fC07><fN21><s1>053</s1></fN21></pA></standard></inist><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Canada</li><li>France</li><li>Royaume-Uni</li><li>Suède</li><li>États-Unis</li></country><region><li>Languedoc-Roussillon</li><li>Occitanie (région administrative)</li><li>Province du Brabant flamand</li><li>Québec</li></region><settlement><li>Louvain</li><li>Montpellier</li><li>Montréal</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Al Chalabi, A" sort="Al Chalabi, A" uniqKey="Al Chalabi A" first="A." last="Al-Chalabi">A. Al-Chalabi</name></noRegion><name sortKey="Chioza, B" sort="Chioza, B" uniqKey="Chioza B" first="B." last="Chioza">B. Chioza</name><name sortKey="Leigh, P N" sort="Leigh, P N" uniqKey="Leigh P" first="P. N." last="Leigh">P. N. Leigh</name><name sortKey="Powell, J F" sort="Powell, J F" uniqKey="Powell J" first="J. F." last="Powell">J. F. Powell</name><name sortKey="Sham, P C" sort="Sham, P C" uniqKey="Sham P" first="P. C." last="Sham">P. C. Sham</name><name sortKey="Shaw, C" sort="Shaw, C" uniqKey="Shaw C" first="C." last="Shaw">C. Shaw</name></country><country name="Suède"><noRegion><name sortKey="Andersen, P M" sort="Andersen, P M" uniqKey="Andersen P" first="P. M." last="Andersen">P. M. Andersen</name></noRegion><name sortKey="Forsgren, L" sort="Forsgren, L" uniqKey="Forsgren L" first="L." last="Forsgren">L. Forsgren</name><name sortKey="Marklund, S L" sort="Marklund, S L" uniqKey="Marklund S" first="S. L." last="Marklund">S. L. Marklund</name></country><country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Robberecht, W" sort="Robberecht, W" uniqKey="Robberecht W" first="W." last="Robberecht">W. Robberecht</name></region><name sortKey="Matthijs, G" sort="Matthijs, G" uniqKey="Matthijs G" first="G." last="Matthijs">G. Matthijs</name></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Camu, W" sort="Camu, W" uniqKey="Camu W" first="W." last="Camu">W. Camu</name></region></country><country name="Canada"><region name="Québec"><name sortKey="Rouleau, G" sort="Rouleau, G" uniqKey="Rouleau G" first="G." last="Rouleau">G. Rouleau</name></region></country><country name="Australie"><noRegion><name sortKey="Laing, N G" sort="Laing, N G" uniqKey="Laing N" first="N. G." last="Laing">N. G. Laing</name></noRegion><name sortKey="Hurse, P V" sort="Hurse, P V" uniqKey="Hurse P" first="P. V." last="Hurse">P. V. 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