MovDisordV3, PascalFrancis, Curation, bibRecord, 002A97

Glucocerebrosidase Mutations Confer a Greater Risk of Dementia during Parkinson's Disease Course

Identifieur interne : 002A97 ( PascalFrancis/Curation ); précédent : 002A96; suivant : 002A98

Glucocerebrosidase Mutations Confer a Greater Risk of Dementia during Parkinson's Disease Course

Auteurs : Núria Seto-Salvia [Espagne] ; Javier Pagonabarraga [Espagne] ; Henry Houlden [Royaume-Uni] ; Berta Pascual-Sedano [Espagne] ; Oriol Dols-Icardo [Espagne] ; Arianna Tucci [Royaume-Uni] ; Coro Paisan-Ruiz [États-Unis] ; Antonia Campolongo [Espagne] ; Sofia Anton-Aguirre [Espagne] ; Inés Martin [Espagne] ; Laia Munoz [Espagne] ; Enric Bufill [Espagne] ; Lluïsa Vilageliu [Espagne] ; Daniel Grinberg [Espagne] ; M Nica Cozar [Espagne] ; Rafael Blesa [Espagne] ; Alberto Lleo [Espagne] ; John Hardy [Royaume-Uni] ; Jaime Kulisevsky [Espagne] ; Jordi Clarimon [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0198682

Descripteurs français

Pascal (Inist)
- Démence à corps de Lewy, Maladie de Parkinson, Pathologie du système nerveux, Mutation, Facteur risque, Corps Lewy maladie.

English descriptors

KwdEn :
- Lewy body dementia, Lewy body disease, Mutation, Nervous system diseases, Parkinson disease, Risk factor.

Abstract

Mutations in the glucocerebrosidase gene are associated with Parkinson's disease and Lewy body dementia. However, whether these alterations have any effect on the clinical course of Parkinson's disease is not clear. The glucocerebrosidase coding region was fully sequenced in 225 Parkinson's disease patients, 17 pathologically confirmed Lewy body dementia patients, and 186 controls from Spain. Twenty-two Parkinson's disease patients (9.8%) and 2 Lewy body dementia patients (11.8%) carried mutations in the glucocerebrosidase gene, compared with only 1 control (0.5%); P = .016 and P = .021 for Parkinson's disease and Lewy body dementia, respectively. The N370S and the L444P mutations represented 50% of the alterations. Two novel variants, L144V and S488T, and 7 previously described alterations were also found. Alterations in glucocerebrosidase were associated with a significant risk of dementia during the clinical course of Parkinson's disease (age at onset, years of evolution, and sex-adjusted odds ratio, 5.8; P = .001). Mutation carriers did not show worse motor symptoms, had good response to _L-dopa, and tended to present the intermediate parkinsonian phenotype. Our findings suggest that mutations in the glucocerebrosidase gene not only increase the risk of both Parkinson's disease and Lewy body dementia but also strongly influence the course of Parkinson's disease with respect to the appearance of dementia.

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C01	`01`		`ENG`	@0 Mutations in the glucocerebrosidase gene are associated with Parkinson's disease and Lewy body dementia. However, whether these alterations have any effect on the clinical course of Parkinson's disease is not clear. The glucocerebrosidase coding region was fully sequenced in 225 Parkinson's disease patients, 17 pathologically confirmed Lewy body dementia patients, and 186 controls from Spain. Twenty-two Parkinson's disease patients (9.8%) and 2 Lewy body dementia patients (11.8%) carried mutations in the glucocerebrosidase gene, compared with only 1 control (0.5%); P = .016 and P = .021 for Parkinson's disease and Lewy body dementia, respectively. The N370S and the L444P mutations represented 50% of the alterations. Two novel variants, L144V and S488T, and 7 previously described alterations were also found. Alterations in glucocerebrosidase were associated with a significant risk of dementia during the clinical course of Parkinson's disease (age at onset, years of evolution, and sex-adjusted odds ratio, 5.8; P = .001). Mutation carriers did not show worse motor symptoms, had good response to _L-dopa, and tended to present the intermediate parkinsonian phenotype. Our findings suggest that mutations in the glucocerebrosidase gene not only increase the risk of both Parkinson's disease and Lewy body dementia but also strongly influence the course of Parkinson's disease with respect to the appearance of dementia.
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Pascal:12-0198682

Le document en format XML

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<author><name sortKey="Dols Icardo, Oriol" sort="Dols Icardo, Oriol" uniqKey="Dols Icardo O" first="Oriol" last="Dols-Icardo">Oriol Dols-Icardo</name>
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<author><name sortKey="Tucci, Arianna" sort="Tucci, Arianna" uniqKey="Tucci A" first="Arianna" last="Tucci">Arianna Tucci</name>
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<author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name>
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<author><name sortKey="Anton Aguirre, Sofia" sort="Anton Aguirre, Sofia" uniqKey="Anton Aguirre S" first="Sofia" last="Anton-Aguirre">Sofia Anton-Aguirre</name>
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<author><name sortKey="Martin, Ines" sort="Martin, Ines" uniqKey="Martin I" first="Inés" last="Martin">Inés Martin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
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<author><name sortKey="Munoz, Laia" sort="Munoz, Laia" uniqKey="Munoz L" first="Laia" last="Munoz">Laia Munoz</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
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<author><name sortKey="Bufill, Enric" sort="Bufill, Enric" uniqKey="Bufill E" first="Enric" last="Bufill">Enric Bufill</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Neurology Service. Hospital General de Vic.</s1>
<s2>Barcelona</s2>
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<author><name sortKey="Vilageliu, Lluisa" sort="Vilageliu, Lluisa" uniqKey="Vilageliu L" first="Lluïsa" last="Vilageliu">Lluïsa Vilageliu</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departament de Genètica, Universitat de Barcelona, IBUB, CIBERER</s1>
<s2>Barcelona</s2>
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<author><name sortKey="Grinberg, Daniel" sort="Grinberg, Daniel" uniqKey="Grinberg D" first="Daniel" last="Grinberg">Daniel Grinberg</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departament de Genètica, Universitat de Barcelona, IBUB, CIBERER</s1>
<s2>Barcelona</s2>
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<author><name sortKey="Cozar, M Nica" sort="Cozar, M Nica" uniqKey="Cozar M" first="M Nica" last="Cozar">M Nica Cozar</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departament de Genètica, Universitat de Barcelona, IBUB, CIBERER</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>13 aut.</sZ>
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<author><name sortKey="Blesa, Rafael" sort="Blesa, Rafael" uniqKey="Blesa R" first="Rafael" last="Blesa">Rafael Blesa</name>
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<s2>Barcelona</s2>
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<sZ>20 aut.</sZ>
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<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>20 aut.</sZ>
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<country>Espagne</country>
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<author><name sortKey="Lleo, Alberto" sort="Lleo, Alberto" uniqKey="Lleo A" first="Alberto" last="Lleo">Alberto Lleo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
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<sZ>20 aut.</sZ>
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<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
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<s3>ESP</s3>
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<country>Espagne</country>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London (UCL), Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
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<country>Royaume-Uni</country>
</affiliation>
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<author><name sortKey="Kulisevsky, Jaime" sort="Kulisevsky, Jaime" uniqKey="Kulisevsky J" first="Jaime" last="Kulisevsky">Jaime Kulisevsky</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
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<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
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</affiliation>
</author>
<author><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>17 aut.</sZ>
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<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
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<country>Espagne</country>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0198682</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0198682 INIST</idno>
<idno type="RBID">Pascal:12-0198682</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000217</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002A97</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Glucocerebrosidase Mutations Confer a Greater Risk of Dementia during Parkinson's Disease Course</title>
<author><name sortKey="Seto Salvia, Nuria" sort="Seto Salvia, Nuria" uniqKey="Seto Salvia N" first="Núria" last="Seto-Salvia">Núria Seto-Salvia</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Area de Prehistoria, Universitat Rovira i Virgili</s1>
<s2>Tarragona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institut Català de Paleoecologia Humana i Evolució Social (IPHES)</s1>
<s2>Tarragona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Pagonabarraga, Javier" sort="Pagonabarraga, Javier" uniqKey="Pagonabarraga J" first="Javier" last="Pagonabarraga">Javier Pagonabarraga</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
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<sZ>17 aut.</sZ>
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<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Molecular Neuroscience, Institute of Neurology, University College London (UCL), Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Pascual Sedano, Berta" sort="Pascual Sedano, Berta" uniqKey="Pascual Sedano B" first="Berta" last="Pascual-Sedano">Berta Pascual-Sedano</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
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<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Dols Icardo, Oriol" sort="Dols Icardo, Oriol" uniqKey="Dols Icardo O" first="Oriol" last="Dols-Icardo">Oriol Dols-Icardo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Tucci, Arianna" sort="Tucci, Arianna" uniqKey="Tucci A" first="Arianna" last="Tucci">Arianna Tucci</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London (UCL), Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Departments of Neurology, Psychiatry, Genetics and Genomics Sciences, and The Friedman Brain Institute, Mount Sinai School of Medicne</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Campolongo, Antonia" sort="Campolongo, Antonia" uniqKey="Campolongo A" first="Antonia" last="Campolongo">Antonia Campolongo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Anton Aguirre, Sofia" sort="Anton Aguirre, Sofia" uniqKey="Anton Aguirre S" first="Sofia" last="Anton-Aguirre">Sofia Anton-Aguirre</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Martin, Ines" sort="Martin, Ines" uniqKey="Martin I" first="Inés" last="Martin">Inés Martin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>5 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Munoz, Laia" sort="Munoz, Laia" uniqKey="Munoz L" first="Laia" last="Munoz">Laia Munoz</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Bufill, Enric" sort="Bufill, Enric" uniqKey="Bufill E" first="Enric" last="Bufill">Enric Bufill</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Neurology Service. Hospital General de Vic.</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Vilageliu, Lluisa" sort="Vilageliu, Lluisa" uniqKey="Vilageliu L" first="Lluïsa" last="Vilageliu">Lluïsa Vilageliu</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departament de Genètica, Universitat de Barcelona, IBUB, CIBERER</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Grinberg, Daniel" sort="Grinberg, Daniel" uniqKey="Grinberg D" first="Daniel" last="Grinberg">Daniel Grinberg</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departament de Genètica, Universitat de Barcelona, IBUB, CIBERER</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Cozar, M Nica" sort="Cozar, M Nica" uniqKey="Cozar M" first="M Nica" last="Cozar">M Nica Cozar</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Departament de Genètica, Universitat de Barcelona, IBUB, CIBERER</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Blesa, Rafael" sort="Blesa, Rafael" uniqKey="Blesa R" first="Rafael" last="Blesa">Rafael Blesa</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
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<sZ>20 aut.</sZ>
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<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Lleo, Alberto" sort="Lleo, Alberto" uniqKey="Lleo A" first="Alberto" last="Lleo">Alberto Lleo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurology Department. Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona</s1>
<s2>Barcelona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED)</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London (UCL), Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Lewy body dementia</term>
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<front><div type="abstract" xml:lang="en">Mutations in the glucocerebrosidase gene are associated with Parkinson's disease and Lewy body dementia. However, whether these alterations have any effect on the clinical course of Parkinson's disease is not clear. The glucocerebrosidase coding region was fully sequenced in 225 Parkinson's disease patients, 17 pathologically confirmed Lewy body dementia patients, and 186 controls from Spain. Twenty-two Parkinson's disease patients (9.8%) and 2 Lewy body dementia patients (11.8%) carried mutations in the glucocerebrosidase gene, compared with only 1 control (0.5%); P = .016 and P = .021 for Parkinson's disease and Lewy body dementia, respectively. The N370S and the L444P mutations represented 50% of the alterations. Two novel variants, L144V and S488T, and 7 previously described alterations were also found. Alterations in glucocerebrosidase were associated with a significant risk of dementia during the clinical course of Parkinson's disease (age at onset, years of evolution, and sex-adjusted odds ratio, 5.8; P = .001). Mutation carriers did not show worse motor symptoms, had good response to <sub>L</sub>
-dopa, and tended to present the intermediate parkinsonian phenotype. Our findings suggest that mutations in the glucocerebrosidase gene not only increase the risk of both Parkinson's disease and Lewy body dementia but also strongly influence the course of Parkinson's disease with respect to the appearance of dementia.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Glucocerebrosidase Mutations Confer a Greater Risk of Dementia during Parkinson's Disease Course

Glucocerebrosidase Mutations Confer a Greater Risk of Dementia during Parkinson's Disease Course

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