MovDisordV3, Main, Merge, bibRecord, 003106

A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients

Identifieur interne : 003106 ( Main/Merge ); précédent : 003105; suivant : 003107

A 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] ; Elahe Elahi [Iran]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0257371

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Dépistage, Mutation, Exon, Homme, Sex ratio.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Exon, Human, Medical screening, Mutation, Nervous system diseases, Parkinson disease, Sex ratio.

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 (296:1) 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.

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Le document en format XML

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<author><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name>
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<author><name sortKey="Farboodi, Niloofar" sort="Farboodi, Niloofar" uniqKey="Farboodi N" first="Niloofar" last="Farboodi">Niloofar Farboodi</name>
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<author><name sortKey="Seyed Ali Ghorashi" sort="Seyed Ali Ghorashi" uniqKey="Seyed Ali Ghorashi" last="Seyed Ali Ghorashi">SEYED ALI GHORASHI</name>
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<author><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name>
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<author><name sortKey="Shahidi, Gholam Ali" sort="Shahidi, Gholam Ali" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name>
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<s3>USA</s3>
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<placeName><region type="state">Californie</region>
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<author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name>
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<s2>Tehran</s2>
<s3>IRN</s3>
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<sZ>11 aut.</sZ>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran</s1>
<s2>Tehran</s2>
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<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran</s1>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients</title>
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<author><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name>
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<author><name sortKey="Farboodi, Niloofar" sort="Farboodi, Niloofar" uniqKey="Farboodi N" first="Niloofar" last="Farboodi">Niloofar Farboodi</name>
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<author><name sortKey="Ghazavi, Farzaneh" sort="Ghazavi, Farzaneh" uniqKey="Ghazavi F" first="Farzaneh" last="Ghazavi">Farzaneh Ghazavi</name>
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<author><name sortKey="Seyed Ali Ghorashi" sort="Seyed Ali Ghorashi" uniqKey="Seyed Ali Ghorashi" last="Seyed Ali Ghorashi">SEYED ALI GHORASHI</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>National Institute of Genetic Engineering and Biotechnology</s1>
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<author><name sortKey="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name>
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<sZ>7 aut.</sZ>
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<author><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurosurgery, Shohada Hospital, Shaheed Beheshti University of Medical Sciences</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shahidi, Gholam Ali" sort="Shahidi, Gholam Ali" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name>
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<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Iran</country>
<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name>
<affiliation wicri:level="2"><inist:fA14 i1="06"><s1>Stanford Genome Technology Center, Stanford University</s1>
<s2>Palo Alto, California</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Biotechnology College of Science, University of Tehran</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
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<s3>IRN</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exon</term>
<term>Human</term>
<term>Medical screening</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Sex ratio</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Dépistage</term>
<term>Mutation</term>
<term>Exon</term>
<term>Homme</term>
<term>Sex ratio</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<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 (296:1) 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.</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>
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<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="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name>
<name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name>
<name sortKey="Seyed Ali Ghorashi" sort="Seyed Ali Ghorashi" uniqKey="Seyed Ali Ghorashi" last="Seyed Ali Ghorashi">SEYED ALI GHORASHI</name>
<name sortKey="Shahidi, Gholam Ali" sort="Shahidi, Gholam Ali" 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>

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	Movement Disorders (revue)
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Movement Disorders (revue)

A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients

A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients

Source :

Descripteurs français

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Abstract

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