C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Identifieur interne : 000109 ( PascalFrancis/Corpus ); précédent : 000108; suivant : 000110C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Auteurs : Suzanne Lesage ; Isabelle Le Ber ; Christel Condroyer ; Emmanuel Broussolle ; Audrey Gabelle ; Stéphane Thobois ; Florence Pasquier ; Karl Mondon ; Patrick A. Dion ; Daniel Rochefort ; Guy A. Rouleau ; Alexandra Dürr ; Alexis BriceSource :
- Brain [ 0006-8950 ] ; 2013.
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- Pascal (Inist)
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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.
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Format Inist (serveur)
| NO : | PASCAL 13-0124500 INIST |
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| ET : | C9orf72 repeat expansions are a rare genetic cause of parkinsonism |
| AU : | LESAGE (Suzanne); LE BER (Isabelle); CONDROYER (Christel); BROUSSOLLE (Emmanuel); GABELLE (Audrey); THOBOIS (Stéphane); PASQUIER (Florence); MONDON (Karl); DION (Patrick A.); ROCHEFORT (Daniel); ROULEAU (Guy A.); DÜRR (Alexandra); BRICE (Alexis) |
| AF : | 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 7225/75013 Paris/France (1 aut., 2 aut., 3 aut., 12 aut., 13 aut.); Centre national de référence des démences rares/75013 Paris/France (2 aut.); Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer/69500 Bron/France (4 aut., 6 aut.); Département de neurologie, CHU Gui de Chauliac/34000 Montpellier/France (5 aut.); Service de Neurologie, Hôpital Roger Salengro/59037 Lille/France (7 aut.); Centre Mémoire de Ressources et de Recherche, CHU Tours/37000 Tours/France (8 aut.); CHUM Research Center and the Université de Montréal, Department of Pathology and Cell Biology/Montréal (Québec), H2L 2W5/Canada (9 aut.); CHUM Research Centre/Montréal (Québec), H2L 2W5/Canada (10 aut.); CHUM Research Center and the Université de Montréal, Department of Medicine/Montréal (Québec), H2L 2W5/Canada (11 aut.); Département de Génétique et Cytogénétique, Hôpital de la Pitié-Salpêtrière/75013 Paris/France (12 aut., 13 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Brain; ISSN 0006-8950; Royaume-Uni; Da. 2013; Vol. 136; No. p. 2; Pp. 385-391; Bibl. 3/4 p. |
| LA : | Anglais |
| EA : | 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. |
| CC : | 002B17; 002B17G |
| FD : | Parkinsonisme; Démence; Pathologie du système nerveux |
| FG : | Maladie dégénérative |
| ED : | Parkinsonism; Dementia; Nervous system diseases |
| EG : | Degenerative disease |
| SD : | Parkinson síndrome; Demencia; Sistema nervioso patología |
| LO : | INIST-998.354000502439490050 |
| ID : | 13-0124500 |
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Rouleau</name><affiliation><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></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><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></affiliation><affiliation><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></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></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><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></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><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name><affiliation><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></affiliation></author><author><name sortKey="Broussolle, Emmanuel" sort="Broussolle, Emmanuel" uniqKey="Broussolle E" first="Emmanuel" last="Broussolle">Emmanuel Broussolle</name><affiliation><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></affiliation></author><author><name sortKey="Gabelle, Audrey" sort="Gabelle, Audrey" uniqKey="Gabelle A" first="Audrey" last="Gabelle">Audrey Gabelle</name><affiliation><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></affiliation></author><author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stéphane" last="Thobois">Stéphane Thobois</name><affiliation><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></affiliation></author><author><name sortKey="Pasquier, Florence" sort="Pasquier, Florence" uniqKey="Pasquier F" first="Florence" last="Pasquier">Florence Pasquier</name><affiliation><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></affiliation></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><affiliation><inist:fA14 i1="08"><s1>CHUM Research Centre</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>10 aut.</sZ></inist:fA14></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><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></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><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></affiliation><affiliation><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></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><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></affiliation><affiliation><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></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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0006-8950</s0></fA01><fA03 i2="1"><s0>Brain</s0></fA03><fA05><s2>136</s2></fA05><fA06><s3>p. 2</s3></fA06><fA08 i1="01" i2="1" l="ENG"><s1>C9orf72 repeat expansions are a rare genetic cause of parkinsonism</s1></fA08><fA11 i1="01" i2="1"><s1>LESAGE (Suzanne)</s1></fA11><fA11 i1="02" i2="1"><s1>LE BER (Isabelle)</s1></fA11><fA11 i1="03" i2="1"><s1>CONDROYER (Christel)</s1></fA11><fA11 i1="04" i2="1"><s1>BROUSSOLLE (Emmanuel)</s1></fA11><fA11 i1="05" i2="1"><s1>GABELLE (Audrey)</s1></fA11><fA11 i1="06" i2="1"><s1>THOBOIS (Stéphane)</s1></fA11><fA11 i1="07" i2="1"><s1>PASQUIER (Florence)</s1></fA11><fA11 i1="08" i2="1"><s1>MONDON (Karl)</s1></fA11><fA11 i1="09" i2="1"><s1>DION (Patrick A.)</s1></fA11><fA11 i1="10" i2="1"><s1>ROCHEFORT (Daniel)</s1></fA11><fA11 i1="11" i2="1"><s1>ROULEAU (Guy A.)</s1></fA11><fA11 i1="12" i2="1"><s1>DÜRR (Alexandra)</s1></fA11><fA11 i1="13" i2="1"><s1>BRICE (Alexis)</s1></fA11><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></fA14><fA14 i1="02"><s1>Centre national de référence des démences rares</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></fA14><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></fA14><fA14 i1="04"><s1>Département de neurologie, CHU Gui de Chauliac</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>5 aut.</sZ></fA14><fA14 i1="05"><s1>Service de Neurologie, Hôpital Roger Salengro</s1><s2>59037 Lille</s2><s3>FRA</s3><sZ>7 aut.</sZ></fA14><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></fA14><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></fA14><fA14 i1="08"><s1>CHUM Research Centre</s1><s2>Montréal (Québec), H2L 2W5</s2><s3>CAN</s3><sZ>10 aut.</sZ></fA14><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></fA14><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></fA14><fA17 i1="01" i2="1"><s1>French Parkinson's Disease Genetics (PDG) Study Group</s1><s3>FRA</s3></fA17><fA20><s1>385-391</s1></fA20><fA21><s1>2013</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>998</s2><s5>354000502439490050</s5></fA43><fA44><s0>0000</s0><s1>© 2013 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>3/4 p.</s0></fA45><fA47 i1="01" i2="1"><s0>13-0124500</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Brain</s0></fA64><fA66 i1="01"><s0>GBR</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Démence</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Dementia</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Demencia</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>03</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>38</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>38</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>38</s5></fC07><fN21><s1>098</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 13-0124500 INIST</NO><ET>C9orf72 repeat expansions are a rare genetic cause of parkinsonism</ET><AU>LESAGE (Suzanne); LE BER (Isabelle); CONDROYER (Christel); BROUSSOLLE (Emmanuel); GABELLE (Audrey); THOBOIS (Stéphane); PASQUIER (Florence); MONDON (Karl); DION (Patrick A.); ROCHEFORT (Daniel); ROULEAU (Guy A.); DÜRR (Alexandra); BRICE (Alexis)</AU><AF>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 7225/75013 Paris/France (1 aut., 2 aut., 3 aut., 12 aut., 13 aut.); Centre national de référence des démences rares/75013 Paris/France (2 aut.); Université Lyon I; Centre de Neurosciences Cognitives, CNRS UMR5229; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer/69500 Bron/France (4 aut., 6 aut.); Département de neurologie, CHU Gui de Chauliac/34000 Montpellier/France (5 aut.); Service de Neurologie, Hôpital Roger Salengro/59037 Lille/France (7 aut.); Centre Mémoire de Ressources et de Recherche, CHU Tours/37000 Tours/France (8 aut.); CHUM Research Center and the Université de Montréal, Department of Pathology and Cell Biology/Montréal (Québec), H2L 2W5/Canada (9 aut.); CHUM Research Centre/Montréal (Québec), H2L 2W5/Canada (10 aut.); CHUM Research Center and the Université de Montréal, Department of Medicine/Montréal (Québec), H2L 2W5/Canada (11 aut.); Département de Génétique et Cytogénétique, Hôpital de la Pitié-Salpêtrière/75013 Paris/France (12 aut., 13 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Brain; ISSN 0006-8950; Royaume-Uni; Da. 2013; Vol. 136; No. p. 2; Pp. 385-391; Bibl. 3/4 p.</SO><LA>Anglais</LA><EA>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.</EA><CC>002B17; 002B17G</CC><FD>Parkinsonisme; Démence; Pathologie du système nerveux</FD><FG>Maladie dégénérative</FG><ED>Parkinsonism; Dementia; Nervous system diseases</ED><EG>Degenerative disease</EG><SD>Parkinson síndrome; Demencia; Sistema nervioso patología</SD><LO>INIST-998.354000502439490050</LO><ID>13-0124500</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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