MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001009

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

Identifieur interne : 001009 ( PascalFrancis/Checkpoint ); précédent : 001008; suivant : 001010

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.

Affiliations:

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<s2>Tehran</s2>
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<s3>IRN</s3>
<sZ>1 aut.</sZ>
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</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>
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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>
<author><name sortKey="Shojaee, Seyedmehdi" sort="Shojaee, Seyedmehdi" uniqKey="Shojaee S" first="Seyedmehdi" last="Shojaee">Seyedmehdi Shojaee</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>
<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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<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>
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<wicri:noRegion>Tehran</wicri:noRegion>
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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>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
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<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>
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<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>
<country>Iran</country>
<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>
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<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
<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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<wicri:noRegion>Tehran</wicri:noRegion>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exon</term>
<term>Human</term>
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<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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<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>
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<sZ>9 aut.</sZ>
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<fA14 i1="03"><s1>Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran</s1>
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<sZ>6 aut.</sZ>
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<fA14 i1="05"><s1>Department of Neurosurgery, Shohada Hospital, Shaheed Beheshti University of Medical Sciences</s1>
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<s3>IRN</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Stanford Genome Technology Center, Stanford University</s1>
<s2>Palo Alto, California</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</fA14>
<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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<sZ>11 aut.</sZ>
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</fA43>
<fA44><s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>20 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>09-0257371</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Dépistage</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Medical screening</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Descubrimiento</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Exon</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Exon</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Exón</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Human</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Sex ratio</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Sex ratio</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Proporción de sexos</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>187</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<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="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

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