C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Identifieur interne : 001080 ( Main/Exploration ); précédent : 001079; suivant : 001081C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Auteurs : Suzanne Lesage [France] ; Isabelle Le Ber [France] ; Christel Condroyer [France] ; Emmanuel Broussolle [France] ; Audrey Gabelle [France] ; Stéphane Thobois [France] ; Florence Pasquier [France] ; Karl Mondon [France] ; Patrick A. Dion [Canada] ; Daniel Rochefort [Canada] ; Guy A. Rouleau [Canada] ; Alexandra Dürr [France] ; Alexis Brice [France]Source :
- Brain [ 0006-8950 ] ; 2013.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
The recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations. As several forms of these disorders are associated with parkinsonism, we hypothesized that some patients with Parkinson's disease or other forms of parkinsonism might carry pathogenic C9orf72 expansions. Therefore, we looked for C9orf72 repeat expansions in 1446 unrelated parkinsonian patients consisting of 1225 patients clinically diagnosed with Parkinson's disease, 123 with progressive supranuclear palsy, 21 with corticobasal degeneration syndrome, 43 with Lewy body dementia and 25 with multiple system atrophy-parkinsonism. Of the 1446 parkinsonian patients, five carried C9orf72 expansions: three patients with typical Parkinson's disease, one with corticobasal degeneration syndrome and another with progressive supranuclear palsy. This study shows that (i) although rare, C9orf72 repeat expansions may be associated with clinically typical Parkinson's disease and also with other parkinsonism; (ii) in several patients, parkinsonism was levodopa-responsive and remained pure, without associated dementia, for >10 years and (iii) interestingly, all C9orf72 repeat expansion carriers had positive family histories of parkinsonism, degenerative dementias or amyotrophic lateral sclerosis. This study also provides the tools for identifying parkinsonian patients with C9orf72 expansions, with important consequences for genetic counselling.
Affiliations:
- Canada, France
- Auvergne-Rhône-Alpes, Centre-Val de Loire, Hauts-de-France, Languedoc-Roussillon, Nord-Pas-de-Calais, Occitanie (région administrative), Rhône-Alpes, Région Centre, Île-de-France
- Bron, Lille, Montpellier, Paris, Tours
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Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre national de référence des démences rares</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer</s1><s2>69500 Bron</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>69500 Bron</wicri:noRegion><wicri:noRegion>Hôpital Neurologique Pierre Wertheimer</wicri:noRegion><wicri:noRegion>69500 Bron</wicri:noRegion></affiliation></author><author><name sortKey="Gabelle, Audrey" sort="Gabelle, Audrey" uniqKey="Gabelle A" first="Audrey" last="Gabelle">Audrey Gabelle</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Département de neurologie, CHU Gui de Chauliac</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>34000 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="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer</s1><s2>69500 Bron</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>69500 Bron</wicri:noRegion><wicri:noRegion>Hôpital Neurologique Pierre Wertheimer</wicri:noRegion><wicri:noRegion>69500 Bron</wicri:noRegion></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Service de Neurologie, Hôpital Roger Salengro</s1><s2>59037 Lille</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>59037 Lille</wicri:noRegion><wicri:noRegion>Hôpital Roger Salengro</wicri:noRegion><wicri:noRegion>59037 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Centre Mémoire de Ressources et de Recherche, CHU Tours</s1><s2>37000 Tours</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>37000 Tours</wicri:noRegion><wicri:noRegion>CHU Tours</wicri:noRegion><wicri:noRegion>37000 Tours</wicri:noRegion></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>CHUM Research Center and the Université de Montréal, Department of Pathology and Cell Biology</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>9 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montréal (Québec), H2L 2W5</wicri:noRegion></affiliation></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>CHUM Research Centre</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>CHUM Research Centre</wicri:noRegion></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>CHUM Research Center and the Université de Montréal, Department of Medicine</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>11 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montréal (Québec), H2L 2W5</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Département de Génétique et Cytogénétique, Hôpital de la Pitié-Salpêtrière</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Département de Génétique et Cytogénétique, Hôpital de la Pitié-Salpêtrière</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">13-0124500</idno><date when="2013">2013</date><idno type="stanalyst">PASCAL 13-0124500 INIST</idno><idno type="RBID">Pascal:13-0124500</idno><idno type="wicri:Area/PascalFrancis/Corpus">000109</idno><idno type="wicri:Area/PascalFrancis/Curation">000B23</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000092</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000092</idno><idno type="wicri:doubleKey">0006-8950:2013:Lesage S:c:orf:repeat</idno><idno type="wicri:Area/Main/Merge">001099</idno><idno type="wicri:Area/Main/Curation">001080</idno><idno type="wicri:Area/Main/Exploration">001080</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">C9orf72 repeat expansions are a rare genetic cause of parkinsonism</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre national de référence des démences rares</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer</s1><s2>69500 Bron</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Bron</settlement></placeName></affiliation></author><author><name sortKey="Gabelle, Audrey" sort="Gabelle, Audrey" uniqKey="Gabelle A" first="Audrey" last="Gabelle">Audrey Gabelle</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Département de neurologie, CHU Gui de Chauliac</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer</s1><s2>69500 Bron</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Bron</settlement></placeName></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Service de Neurologie, Hôpital Roger Salengro</s1><s2>59037 Lille</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centre Mémoire de Ressources et de Recherche, CHU Tours</s1><s2>37000 Tours</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Centre-Val de Loire</region><region type="old region" nuts="2">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>CHUM Research Center and the Université de Montréal, Department of Pathology and Cell Biology</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>9 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montréal (Québec), H2L 2W5</wicri:noRegion></affiliation></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>CHUM Research Centre</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>CHUM Research Centre</wicri:noRegion></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>CHUM Research Center and the Université de Montréal, Department of Medicine</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>11 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Montréal (Québec), H2L 2W5</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Département de Génétique et Cytogénétique, Hôpital de la Pitié-Salpêtrière</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-5975; Inserm, U975, CNRS, UMR 7225</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Département de Génétique et Cytogénétique, Hôpital de la Pitié-Salpêtrière</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Brain</title><title level="j" type="abbreviated">Brain</title><idno type="ISSN">0006-8950</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Brain</title><title level="j" type="abbreviated">Brain</title><idno type="ISSN">0006-8950</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dementia</term><term>Nervous system diseases</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Démence</term><term>Pathologie du système nerveux</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations. As several forms of these disorders are associated with parkinsonism, we hypothesized that some patients with Parkinson's disease or other forms of parkinsonism might carry pathogenic C9orf72 expansions. Therefore, we looked for C9orf72 repeat expansions in 1446 unrelated parkinsonian patients consisting of 1225 patients clinically diagnosed with Parkinson's disease, 123 with progressive supranuclear palsy, 21 with corticobasal degeneration syndrome, 43 with Lewy body dementia and 25 with multiple system atrophy-parkinsonism. Of the 1446 parkinsonian patients, five carried C9orf72 expansions: three patients with typical Parkinson's disease, one with corticobasal degeneration syndrome and another with progressive supranuclear palsy. This study shows that (i) although rare, C9orf72 repeat expansions may be associated with clinically typical Parkinson's disease and also with other parkinsonism; (ii) in several patients, parkinsonism was levodopa-responsive and remained pure, without associated dementia, for >10 years and (iii) interestingly, all C9orf72 repeat expansion carriers had positive family histories of parkinsonism, degenerative dementias or amyotrophic lateral sclerosis. This study also provides the tools for identifying parkinsonian patients with C9orf72 expansions, with important consequences for genetic counselling.</div></front></TEI><affiliations><list><country><li>Canada</li><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Centre-Val de Loire</li><li>Hauts-de-France</li><li>Languedoc-Roussillon</li><li>Nord-Pas-de-Calais</li><li>Occitanie (région administrative)</li><li>Rhône-Alpes</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Bron</li><li>Lille</li><li>Montpellier</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></region><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Gabelle, Audrey" sort="Gabelle, Audrey" uniqKey="Gabelle A" first="Audrey" last="Gabelle">Audrey Gabelle</name><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name></country><country name="Canada"><noRegion><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A." last="Dion">Patrick A. Dion</name></noRegion><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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