MovDisordV3, PascalFrancis, Curation, bibRecord, 001477

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Identifieur interne : 001477 ( PascalFrancis/Curation ); précédent : 001476; suivant : 001478

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Auteurs : Nathan Pankratz [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Veronika E. Elsaesser [États-Unis] ; Diane K. Marek [États-Unis] ; Cheryl A. Halter [États-Unis] ; Alice Rudolph [États-Unis] ; Clifford W. Shults [États-Unis] ; Tatiana Foroud [États-Unis] ; William C. Nichols [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:07-0090895

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Mutation, Nord, Américain, Maladie familiale.

English descriptors

KwdEn :
- American, Familial disease, Mutation, Nervous system diseases, North, Parkinson disease.

Abstract

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.

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A08	`01`	`1`	`ENG`	`@1 Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease`
A11	`01`	`1`		`@1 PANKRATZ (Nathan)`
A11	`02`	`1`		`@1 PAUCIULO (Michael W.)`
A11	`03`	`1`		`@1 ELSAESSER (Veronika E.)`
A11	`04`	`1`		`@1 MAREK (Diane K.)`
A11	`05`	`1`		`@1 HALTER (Cheryl A.)`
A11	`06`	`1`		`@1 RUDOLPH (Alice)`
A11	`07`	`1`		`@1 SHULTS (Clifford W.)`
A11	`08`	`1`		`@1 FOROUD (Tatiana)`
A11	`09`	`1`		`@1 NICHOLS (William C.)`
A14	`01`			`@1 Indiana University Medical Center @2 Indianapolis, Indiana @3 USA @Z 1 aut. @Z 5 aut. @Z 8 aut.`
A14	`02`			`@1 Cincinnati Children's Hospital Medical Center @2 Cincinnati, Ohio @3 USA @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 9 aut.`
A14	`03`			`@1 University of Rochester @2 Rochester, New York @3 USA @Z 6 aut.`
A14	`04`			`@1 University of California, La Jolla, and VA San Diego Healthcare System @2 San Diego, California @3 USA @Z 7 aut.`
A14	`05`			`@1 University of Cincinnati School of Medicine @2 Cincinnati, Ohio @3 USA @Z 9 aut.`
A17	`01`	`1`		`@1 Parkinson Study Group-PROGENI Investigators @3 USA`
A20				`@1 2257-2260`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145356790450`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
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A47	`01`	`1`		`@0 07-0090895`
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A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinson maladie @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinson disease @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson enfermedad @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Nord @5 10`
C03	`04`	`X`	`ENG`	`@0 North @5 10`
C03	`04`	`X`	`SPA`	`@0 Norte @5 10`
C03	`05`	`X`	`FRE`	`@0 Américain @5 11`
C03	`05`	`X`	`ENG`	`@0 American @5 11`
C03	`05`	`X`	`SPA`	`@0 Americano @5 11`
C03	`06`	`X`	`FRE`	`@0 Maladie familiale @2 NM @5 12`
C03	`06`	`X`	`ENG`	`@0 Familial disease @2 NM @5 12`
C03	`06`	`X`	`SPA`	`@0 Enfermedad familiar @2 NM @5 12`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @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 Extrapyramidal syndrome @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 Système nerveux central pathologie @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				`@1 057`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:07-0090895

Le document en format XML

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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>University of Cincinnati School of Medicine</s1>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease</title>
<author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
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<country>États-Unis</country>
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</author>
<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cincinnati Children's Hospital Medical Center</s1>
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<author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
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<author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
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<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>University of Rochester</s1>
<s2>Rochester, New York</s2>
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<author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
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</affiliation>
</author>
<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Indiana University Medical Center</s1>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
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<country>États-Unis</country>
</affiliation>
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<country>États-Unis</country>
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</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006">2006</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>American</term>
<term>Familial disease</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>North</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Mutation</term>
<term>Nord</term>
<term>Américain</term>
<term>Maladie familiale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.</div>
</front>
</TEI>
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<fA11 i1="01" i2="1"><s1>PANKRATZ (Nathan)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>PAUCIULO (Michael W.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>ELSAESSER (Veronika E.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>MAREK (Diane K.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>HALTER (Cheryl A.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>RUDOLPH (Alice)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>SHULTS (Clifford W.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>FOROUD (Tatiana)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>NICHOLS (William C.)</s1>
</fA11>
<fA14 i1="01"><s1>Indiana University Medical Center</s1>
<s2>Indianapolis, Indiana</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Cincinnati Children's Hospital Medical Center</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>University of Rochester</s1>
<s2>Rochester, New York</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>University of California, La Jolla, and VA San Diego Healthcare System</s1>
<s2>San Diego, California</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>University of Cincinnati School of Medicine</s1>
<s2>Cincinnati, Ohio</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
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<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>15 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0090895</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</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>A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A03</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Nord</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>North</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Norte</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Américain</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>American</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Americano</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Maladie familiale</s0>
<s2>NM</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Familial disease</s0>
<s2>NM</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Enfermedad familiar</s0>
<s2>NM</s2>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</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>Extrapyramidal syndrome</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>Système nerveux central pathologie</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>057</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson's disease

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