High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
Identifieur interne : 001042 ( Main/Exploration ); précédent : 001041; suivant : 001043High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
Auteurs : Joaquim J. Ferreira [Portugal, Pays-Bas] ; Leonor Correia Guedes [Portugal] ; Mário Miguel Rosa [Portugal] ; Miguel Coelho [Portugal] ; Marina Van Doeselaar [Pays-Bas] ; Dorothea Schweiger [Pays-Bas] ; Alessio Di Fonzo [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Cristina Sampaio [Portugal] ; Vincenzo Bonifati [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-06-15.
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Abstract
Mutations in the Leucine‐Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S‐positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work‐up and genetic counseling of patients with this disease in Portugal. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21525
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Ferreira</name></author><author><name sortKey="Guedes, Leonor Correia" sort="Guedes, Leonor Correia" uniqKey="Guedes L" first="Leonor Correia" last="Guedes">Leonor Correia Guedes</name></author><author><name sortKey="Rosa, Mario Miguel" sort="Rosa, Mario Miguel" uniqKey="Rosa M" first="Mário Miguel" last="Rosa">Mário Miguel Rosa</name></author><author><name sortKey="Coelho, Miguel" sort="Coelho, Miguel" uniqKey="Coelho M" first="Miguel" last="Coelho">Miguel Coelho</name></author><author><name sortKey="Van Doeselaar, Marina" sort="Van Doeselaar, Marina" uniqKey="Van Doeselaar M" first="Marina" last="Van Doeselaar">Marina Van Doeselaar</name></author><author><name sortKey="Schweiger, Dorothea" sort="Schweiger, Dorothea" uniqKey="Schweiger D" first="Dorothea" last="Schweiger">Dorothea Schweiger</name></author><author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. 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Oostra</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Sampaio, Cristina" sort="Sampaio, Cristina" uniqKey="Sampaio C" first="Cristina" last="Sampaio">Cristina Sampaio</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Neurological Clinic Research Unit, Institute of Molecular Medicine, Lisbon School of Medicine, Lisbon</wicri:regionArea><wicri:noRegion>Lisbon</wicri:noRegion></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Joaquim J. Ferreira, Centro de Estudos Egas Moniz, Faculdade de Medicina de Lisboa, 1649‐028 Lisboa, PortugalVincenzo Bonifati, Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam</wicri:regionArea><wicri:noRegion>3000 CA Rotterdam</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-06-15">2007-06-15</date><biblScope unit="volume">22</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1194">1194</biblScope><biblScope unit="page" to="1201">1201</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">594F5954AF3B87DBF060DB2A608CAA933340BFD9</idno><idno type="DOI">10.1002/mds.21525</idno><idno type="ArticleID">MDS21525</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinson's disease</term><term>Portugal</term><term>mutation</term><term>parkin</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Portugal</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Leucine‐Rich Repeat Kinase 2 (LRRK2) gene are the most frequent known cause of Parkinson's disease (PD), but their prevalence varies markedly between populations. Here we studied the frequency and associated phenotype of four recurrent LRRK2 mutations (R1441C, R1441G, R1441H, and G2019S) in familial and sporadic PD from a single referral center in Lisbon, Portugal. Among 138 unrelated PD probands, we identified 9 heterozygous G2019S carriers (6.52%) and 1 heterozygous R1441H carrier (0.72%). The G2019S mutation was present in 4 of the 107 sporadic (3.74%) and in 5 of the 31 familial probands (16.1%). Mutations were not found among 101 Portuguese controls. The G2019S mutation was present on a single haplotype and displayed reduced penetrance. Heterozygous parkin gene mutations were also found in 2 G2019S‐positive probands, but their pathogenic role is unclear. The clinical phenotype in patients with LRRK2 mutations was indistinguishable from that of typical PD, including impaired sense of smell. The G2019S mutation is a very common genetic determinant among the Portuguese patients with PD, and the R1441H mutation is also present in this population. These data have important implications for the diagnostic work‐up and genetic counseling of patients with this disease in Portugal. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pays-Bas</li><li>Portugal</li></country><region><li>Hollande-Méridionale</li></region><settlement><li>Rotterdam</li></settlement></list><tree><country name="Portugal"><noRegion><name sortKey="Ferreira, Joaquim J" sort="Ferreira, Joaquim J" uniqKey="Ferreira J" first="Joaquim J." last="Ferreira">Joaquim J. Ferreira</name></noRegion><name sortKey="Coelho, Miguel" sort="Coelho, Miguel" uniqKey="Coelho M" first="Miguel" last="Coelho">Miguel Coelho</name><name sortKey="Guedes, Leonor Correia" sort="Guedes, Leonor Correia" uniqKey="Guedes L" first="Leonor Correia" last="Guedes">Leonor Correia Guedes</name><name sortKey="Rosa, Mario Miguel" sort="Rosa, Mario Miguel" uniqKey="Rosa M" first="Mário Miguel" last="Rosa">Mário Miguel Rosa</name><name sortKey="Sampaio, Cristina" sort="Sampaio, Cristina" uniqKey="Sampaio C" first="Cristina" last="Sampaio">Cristina Sampaio</name></country><country name="Pays-Bas"><noRegion><name sortKey="Ferreira, Joaquim J" sort="Ferreira, Joaquim J" uniqKey="Ferreira J" first="Joaquim J." last="Ferreira">Joaquim J. Ferreira</name></noRegion><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name><name sortKey="Schweiger, Dorothea" sort="Schweiger, Dorothea" uniqKey="Schweiger D" first="Dorothea" last="Schweiger">Dorothea Schweiger</name><name sortKey="Van Doeselaar, Marina" sort="Van Doeselaar, Marina" uniqKey="Van Doeselaar M" first="Marina" last="Van Doeselaar">Marina Van Doeselaar</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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