MovDisordV3, PascalFrancis, Corpus, bibRecord, 000E62

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

Identifieur interne : 000E62 ( PascalFrancis/Corpus ); précédent : 000E61; suivant : 000E63

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 ; Farzad Sina ; Niloofar Farboodi ; Zeinab Fazlali ; Farzaneh Ghazavi ; SEYED ALI GHORASHI ; Khosro Parsa ; Homa Sadeghi ; Gholam-Ali Shahidi ; Mostafa Ronaghi ; Elahe Elahi

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A05				`@2 24`
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A08	`01`	`1`	`ENG`	`@1 A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients`
A11	`01`	`1`		`@1 SHOJAEE (Seyedmehdi)`
A11	`02`	`1`		`@1 SINA (Farzad)`
A11	`03`	`1`		`@1 FARBOODI (Niloofar)`
A11	`04`	`1`		`@1 FAZLALI (Zeinab)`
A11	`05`	`1`		`@1 GHAZAVI (Farzaneh)`
A11	`06`	`1`		`@1 SEYED ALI GHORASHI`
A11	`07`	`1`		`@1 PARSA (Khosro)`
A11	`08`	`1`		`@1 SADEGHI (Homa)`
A11	`09`	`1`		`@1 SHAHIDI (Gholam-Ali)`
A11	`10`	`1`		`@1 RONAGHI (Mostafa)`
A11	`11`	`1`		`@1 ELAHI (Elahe)`
A14	`01`			`@1 Department of Biotechnology College of Science, University of Tehran @2 Tehran @3 IRN @Z 1 aut. @Z 11 aut.`
A14	`02`			`@1 Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital @2 Tehran @3 IRN @Z 2 aut. @Z 9 aut.`
A14	`03`			`@1 Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran @2 Tehran @3 IRN @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 11 aut.`
A14	`04`			`@1 National Institute of Genetic Engineering and Biotechnology @2 Tehran @3 IRN @Z 6 aut.`
A14	`05`			`@1 Department of Neurosurgery, Shohada Hospital, Shaheed Beheshti University of Medical Sciences @2 Tehran @3 IRN @Z 7 aut. @Z 8 aut.`
A14	`06`			`@1 Stanford Genome Technology Center, Stanford University @2 Palo Alto, California @3 USA @Z 10 aut.`
A14	`07`			`@1 Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran @2 Tehran @3 IRN @Z 11 aut.`
A20				`@1 1023-1027`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000188271060100`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 20 ref.`
A47	`01`	`1`		`@0 09-0257371`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Dépistage @5 09`
C03	`03`	`X`	`ENG`	`@0 Medical screening @5 09`
C03	`03`	`X`	`SPA`	`@0 Descubrimiento @5 09`
C03	`04`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`04`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`04`	`X`	`SPA`	`@0 Mutación @5 10`
C03	`05`	`X`	`FRE`	`@0 Exon @5 11`
C03	`05`	`X`	`ENG`	`@0 Exon @5 11`
C03	`05`	`X`	`SPA`	`@0 Exón @5 11`
C03	`06`	`X`	`FRE`	`@0 Homme @5 12`
C03	`06`	`X`	`ENG`	`@0 Human @5 12`
C03	`06`	`X`	`SPA`	`@0 Hombre @5 12`
C03	`07`	`X`	`FRE`	`@0 Sex ratio @5 13`
C03	`07`	`X`	`ENG`	`@0 Sex ratio @5 13`
C03	`07`	`X`	`SPA`	`@0 Proporción de sexos @5 13`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 187`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0257371 INIST
ET :	A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients
AU :	SHOJAEE (Seyedmehdi); SINA (Farzad); FARBOODI (Niloofar); FAZLALI (Zeinab); GHAZAVI (Farzaneh); SEYED ALI GHORASHI; PARSA (Khosro); SADEGHI (Homa); SHAHIDI (Gholam-Ali); RONAGHI (Mostafa); ELAHI (Elahe)
AF :	Department of Biotechnology College of Science, University of Tehran/Tehran/Iran (1 aut., 11 aut.); Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital/Tehran/Iran (2 aut., 9 aut.); Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran/Tehran/Iran (3 aut., 4 aut., 5 aut., 11 aut.); National Institute of Genetic Engineering and Biotechnology/Tehran/Iran (6 aut.); Department of Neurosurgery, Shohada Hospital, Shaheed Beheshti University of Medical Sciences/Tehran/Iran (7 aut., 8 aut.); Stanford Genome Technology Center, Stanford University/Palo Alto, California/Etats-Unis (10 aut.); Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran/Tehran/Iran (11 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 7; Pp. 1023-1027; Bibl. 20 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Dépistage; Mutation; Exon; Homme; Sex ratio
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Medical screening; Mutation; Exon; Human; Sex ratio
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Descubrimiento; Mutación; Exón; Hombre; Proporción de sexos
LO :	INIST-20953.354000188271060100
ID :	09-0257371

Links to Exploration step

Pascal:09-0257371

Le document en format XML

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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><inist:fA14 i1="02"><s1>Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital</s1>
<s2>Tehran</s2>
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</author>
<author><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name>
<affiliation><inist:fA14 i1="06"><s1>Stanford Genome Technology Center, Stanford University</s1>
<s2>Palo Alto, California</s2>
<s3>USA</s3>
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</author>
<author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>11 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>
<affiliation><inist:fA14 i1="01"><s1>Department of Biotechnology College of Science, University of Tehran</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
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<author><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name>
<affiliation><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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Farboodi, Niloofar" sort="Farboodi, Niloofar" uniqKey="Farboodi N" first="Niloofar" last="Farboodi">Niloofar Farboodi</name>
<affiliation><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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<author><name sortKey="Fazlali, Zeinab" sort="Fazlali, Zeinab" uniqKey="Fazlali Z" first="Zeinab" last="Fazlali">Zeinab Fazlali</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ghazavi, Farzaneh" sort="Ghazavi, Farzaneh" uniqKey="Ghazavi F" first="Farzaneh" last="Ghazavi">Farzaneh Ghazavi</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Seyed Ali Ghorashi" sort="Seyed Ali Ghorashi" uniqKey="Seyed Ali Ghorashi" last="Seyed Ali Ghorashi">SEYED ALI GHORASHI</name>
<affiliation><inist:fA14 i1="04"><s1>National Institute of Genetic Engineering and Biotechnology</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Shahidi, Gholam Ali" sort="Shahidi, Gholam Ali" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name>
<affiliation><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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><inist:fA14 i1="07"><s1>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran</s1>
<s2>Tehran</s2>
<s3>IRN</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
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<series><title level="j" type="main">Movement disorders</title>
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<term>Sex ratio</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
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<term>Mutation</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>8 aut.</sZ>
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<ET>A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients</ET>
<AU>SHOJAEE (Seyedmehdi); SINA (Farzad); FARBOODI (Niloofar); FAZLALI (Zeinab); GHAZAVI (Farzaneh); SEYED ALI GHORASHI; PARSA (Khosro); SADEGHI (Homa); SHAHIDI (Gholam-Ali); RONAGHI (Mostafa); ELAHI (Elahe)</AU>
<AF>Department of Biotechnology College of Science, University of Tehran/Tehran/Iran (1 aut., 11 aut.); Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital/Tehran/Iran (2 aut., 9 aut.); Department of Cellular and Molecular Biology, School of Biology, College of Science, University of Tehran/Tehran/Iran (3 aut., 4 aut., 5 aut., 11 aut.); National Institute of Genetic Engineering and Biotechnology/Tehran/Iran (6 aut.); Department of Neurosurgery, Shohada Hospital, Shaheed Beheshti University of Medical Sciences/Tehran/Iran (7 aut., 8 aut.); Stanford Genome Technology Center, Stanford University/Palo Alto, California/Etats-Unis (10 aut.); Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran/Tehran/Iran (11 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
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<EA>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.</EA>
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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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