The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Identifieur interne : 001352 ( Main/Exploration ); précédent : 001351; suivant : 001353The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Auteurs : Chiara Criscuolo [Pays-Bas, Italie] ; Anna De Rosa [Italie] ; Anna Guacci [Italie] ; Erik J. Simons [Pays-Bas] ; Guido J. Breedveld [Pays-Bas] ; Silvio Peluso [Italie] ; Giampiero Volpe [Italie] ; Alessandro Filla [Italie] ; Ben A. Oostra [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas] ; Giuseppe De Michele [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-08-01.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Aged, Amino Acids (genetics), Disability Evaluation, Female, G2019S, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease (genetics), Genotype, Human, Humans, Italy, Kinase, Leucine, Male, Middle Aged, Mutation, Nervous system diseases, PARK8, Parkinson Disease (genetics), Parkinson disease, Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), R1441C, leucine‐rich repeat kinase 2.
- MESH :
- chemical , genetics : Amino Acids, Protein-Serine-Threonine Kinases.
- geographic : Italy.
- genetics : Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide.
- Aged, Disability Evaluation, Female, Gene Frequency, Genetic Association Studies, Genotype, Humans, Male, Middle Aged.
Abstract
Background:: Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries. Methods:: One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion. Results:: Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect. Conclusions:: G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23735
Affiliations:
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Simons</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="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J." last="Breedveld">Guido J. Breedveld</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="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, S.Giovanni di Dio e Ruggi d'Aragona Hospital, Salerno</wicri:regionArea><wicri:noRegion>Salerno</wicri:noRegion></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. 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="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></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</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="2011-08-01">2011-08-01</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1732">1732</biblScope><biblScope unit="page" to="1736">1736</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">01F670314E46C3EBD001B0382A1FDE3A22F788D9</idno><idno type="DOI">10.1002/mds.23735</idno><idno type="ArticleID">MDS23735</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Amino Acids (genetics)</term><term>Disability Evaluation</term><term>Female</term><term>G2019S</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Human</term><term>Humans</term><term>Italy</term><term>Kinase</term><term>Leucine</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Nervous system diseases</term><term>PARK8</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>R1441C</term><term>leucine‐rich repeat kinase 2</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acids</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Disability Evaluation</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Homme</term><term>Italie</term><term>Kinase</term><term>Leucine</term><term>Maladie de Parkinson</term><term>Mutation</term><term>Pathologie du système nerveux</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries. Methods:: One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion. Results:: Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect. Conclusions:: G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li></region><settlement><li>Rotterdam</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name></region><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J." last="Breedveld">Guido J. Breedveld</name><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name><name sortKey="Simons, Erik J" sort="Simons, Erik J" uniqKey="Simons E" first="Erik J." last="Simons">Erik J. Simons</name></country><country name="Italie"><noRegion><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name></noRegion><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><name sortKey="Guacci, Anna" sort="Guacci, Anna" uniqKey="Guacci A" first="Anna" last="Guacci">Anna Guacci</name><name sortKey="Peluso, Silvio" sort="Peluso, Silvio" uniqKey="Peluso S" first="Silvio" last="Peluso">Silvio Peluso</name><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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