A clinic‐based screening of mutations in exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's disease patients
Identifieur interne : 002484 ( Main/Exploration ); précédent : 002483; suivant : 002485A clinic‐based screening of mutations in exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's disease patients
Auteurs : Seyedmehdi Shojaee [Iran] ; Farzad Sina [Iran] ; Niloofar Farboodi [Iran] ; Zeinab Fazlali [Iran] ; Farzaneh Ghazavi [Iran] ; Seyed Ali Ghorashi [Iran] ; Khosro Parsa [Iran] ; Homa Sadeghi [Iran] ; Gholam-Ali Shahidi [Iran] ; Mostafa Ronaghi [États-Unis, Iran] ; Elahe Elahi [Iran]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-05-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Arginine (genetics), Child, Cysteine (genetics), DNA Mutational Analysis, Exon, Exons (genetics), Female, Genetic Testing, Human, Humans, IVS31 + 3A > G, Iran, LRRK2, Male, Medical screening, Middle Aged, Mutation, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), R1441C, Sex ratio, Young Adult, sex ratio.
- MESH :
- chemical , genetics : Arginine, Cysteine, Protein-Serine-Threonine Kinases.
- geographic : Iran.
- genetics : Exons, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, DNA Mutational Analysis, Female, Genetic Testing, Humans, Male, Middle Aged, Young Adult.
Abstract
We present results of mutation screening of exons 31, 34, 35, 41, and 48 of LRRK2 in 205 Iranian Parkinson's disease patients. Sixteen percent of the cases were familial. Although age was not a factor in patient recruitment, the Iranian cohort was relatively young (average age at onset of disease: 48.9 years). A notably high male to female ratio (2.96:1) and earlier age at onset (by 2.9 years) in men were observed. A known disease‐associated variation, c.C4321T causing R1441C, and IVS31 + 3A > G, a variation that may be associated, were observed. Therefore, disregarding IVS31 + 3A > G, disease status in at least 0.5% of our young cohort and in 3.5% of the familial cases was associated with a mutation in the five exons of LRRK2 screened. Interestingly, the variation causing p.G2019S was not observed. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22503
Affiliations:
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sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Farboodi, Niloofar" sort="Farboodi, Niloofar" uniqKey="Farboodi N" first="Niloofar" last="Farboodi">Niloofar Farboodi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Fazlali, Zeinab" sort="Fazlali, Zeinab" uniqKey="Fazlali Z" first="Zeinab" last="Fazlali">Zeinab Fazlali</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of 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Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Biotechnology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr" wicri:curation="lc">Iran</country><wicri:regionArea>Mostafa Ronaghi, Illumina Inc, 9885 Towne Centre Drive, San Diego, CA 92121===Elahe Elahi, School of Biology, College of Science, University of Tehran, Enghelab St, Tehran</wicri:regionArea><wicri:noRegion>Tehran</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="2009-05-15">2009-05-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1023">1023</biblScope><biblScope unit="page" to="1027">1027</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4ECD2D01158846726A07FA3DEBF84A2715570DA9</idno><idno type="DOI">10.1002/mds.22503</idno><idno type="ArticleID">MDS22503</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Arginine (genetics)</term><term>Child</term><term>Cysteine (genetics)</term><term>DNA Mutational Analysis</term><term>Exon</term><term>Exons (genetics)</term><term>Female</term><term>Genetic Testing</term><term>Human</term><term>Humans</term><term>IVS31 + 3A > G</term><term>Iran</term><term>LRRK2</term><term>Male</term><term>Medical screening</term><term>Middle Aged</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>R1441C</term><term>Sex ratio</term><term>Young Adult</term><term>sex ratio</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Cysteine</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Iran</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dépistage</term><term>Exon</term><term>Homme</term><term>Maladie de Parkinson</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Sex ratio</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">We present results of mutation screening of exons 31, 34, 35, 41, and 48 of LRRK2 in 205 Iranian Parkinson's disease patients. Sixteen percent of the cases were familial. Although age was not a factor in patient recruitment, the Iranian cohort was relatively young (average age at onset of disease: 48.9 years). A notably high male to female ratio (2.96:1) and earlier age at onset (by 2.9 years) in men were observed. A known disease‐associated variation, c.C4321T causing R1441C, and IVS31 + 3A > G, a variation that may be associated, were observed. Therefore, disregarding IVS31 + 3A > G, disease status in at least 0.5% of our young cohort and in 3.5% of the familial cases was associated with a mutation in the five exons of LRRK2 screened. Interestingly, the variation causing p.G2019S was not observed. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Iran</li><li>États-Unis</li></country><region><li>Californie</li></region></list><tree><country name="Iran"><noRegion><name sortKey="Shojaee, Seyedmehdi" sort="Shojaee, Seyedmehdi" uniqKey="Shojaee S" first="Seyedmehdi" last="Shojaee">Seyedmehdi Shojaee</name></noRegion><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Farboodi, Niloofar" sort="Farboodi, Niloofar" uniqKey="Farboodi N" first="Niloofar" last="Farboodi">Niloofar Farboodi</name><name sortKey="Fazlali, Zeinab" sort="Fazlali, Zeinab" uniqKey="Fazlali Z" first="Zeinab" last="Fazlali">Zeinab Fazlali</name><name sortKey="Ghazavi, Farzaneh" sort="Ghazavi, Farzaneh" uniqKey="Ghazavi F" first="Farzaneh" last="Ghazavi">Farzaneh Ghazavi</name><name sortKey="Ghorashi, Seyed Ali" sort="Ghorashi, Seyed Ali" uniqKey="Ghorashi S" first="Seyed Ali" last="Ghorashi">Seyed Ali Ghorashi</name><name sortKey="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name><name sortKey="Shahidi, Gholam Li" sort="Shahidi, Gholam Li" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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