MovDisordV3, PascalFrancis, Corpus, bibRecord, 001A81

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

Identifieur interne : 001A81 ( PascalFrancis/Corpus ); précédent : 001A80; suivant : 001A82

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

Auteurs : E. K. Tan ; Lisa Skipper ; Eva Chua ; Meng-Cheong Wong ; Ratnagopal Pavanni ; Carine Bonnard ; Prasanna Kolatkar ; Jian-Jun Liu

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0393863

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Parkinson disease.

Abstract

The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies primarily focus on the common G2019S mutation. Analysis of a spectrum of LRRK2 mutations in Parkinson's Plus disorders has yet to be reported. We investigated 14 leucine-rich repeat kinase 2 (LRRK2) mutations in a cohort of Parkinson's Plus disorders and LOPD. A total of 458 patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal ganglionic degeneration (CBGD), atypical Parkinsonism (AP), and LOPD were screened for 14 mutations that span exons 19 to 41 of the LRRK2 gene. Among the LOPD cases, 1 patient was found to harbor the R1441C mutation. He presented with typical features of PD at age of 58 years old and responded well to levodopa. We did not detect any of the 14 mutations in PSP, MSA, CBGD, and AP patients. We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of nonEuropean ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 21`
A06				`@2 7`
A08	`01`	`1`	`ENG`	`@1 Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease`
A11	`01`	`1`		`@1 TAN (E. K.)`
A11	`02`	`1`		`@1 SKIPPER (Lisa)`
A11	`03`	`1`		`@1 CHUA (Eva)`
A11	`04`	`1`		`@1 WONG (Meng-Cheong)`
A11	`05`	`1`		`@1 PAVANNI (Ratnagopal)`
A11	`06`	`1`		`@1 BONNARD (Carine)`
A11	`07`	`1`		`@1 KOLATKAR (Prasanna)`
A11	`08`	`1`		`@1 LIU (Jian-Jun)`
A14	`01`			`@1 Department of Neurology, Singapore General Hospital @3 SGP @Z 1 aut. @Z 3 aut.`
A14	`02`			`@1 Division of Research, SingHealth @3 SGP @Z 1 aut. @Z 3 aut.`
A14	`03`			`@1 National Neuroscience Institute, Population Genetics @3 SGP @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`04`			`@1 Genome Institute of Singapore @3 SGP @Z 2 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut.`
A20				`@1 997-1001`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000133412770180`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 23 ref.`
A47	`01`	`1`		`@0 06-0393863`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies primarily focus on the common G2019S mutation. Analysis of a spectrum of LRRK2 mutations in Parkinson's Plus disorders has yet to be reported. We investigated 14 leucine-rich repeat kinase 2 (LRRK2) mutations in a cohort of Parkinson's Plus disorders and LOPD. A total of 458 patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal ganglionic degeneration (CBGD), atypical Parkinsonism (AP), and LOPD were screened for 14 mutations that span exons 19 to 41 of the LRRK2 gene. Among the LOPD cases, 1 patient was found to harbor the R1441C mutation. He presented with typical features of PD at age of 58 years old and responded well to levodopa. We did not detect any of the 14 mutations in PSP, MSA, CBGD, and AP patients. We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of nonEuropean ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17H`
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`
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				`@1 261`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0393863 INIST
ET :	Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease
AU :	TAN (E. K.); SKIPPER (Lisa); CHUA (Eva); WONG (Meng-Cheong); PAVANNI (Ratnagopal); BONNARD (Carine); KOLATKAR (Prasanna); LIU (Jian-Jun)
AF :	Department of Neurology, Singapore General Hospital/Singapour (1 aut., 3 aut.); Division of Research, SingHealth/Singapour (1 aut., 3 aut.); National Neuroscience Institute, Population Genetics/Singapour (1 aut., 4 aut., 5 aut.); Genome Institute of Singapore/Singapour (2 aut., 6 aut., 7 aut., 8 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 7; Pp. 997-1001; Bibl. 23 ref.
LA :	Anglais
EA :	The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies primarily focus on the common G2019S mutation. Analysis of a spectrum of LRRK2 mutations in Parkinson's Plus disorders has yet to be reported. We investigated 14 leucine-rich repeat kinase 2 (LRRK2) mutations in a cohort of Parkinson's Plus disorders and LOPD. A total of 458 patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal ganglionic degeneration (CBGD), atypical Parkinsonism (AP), and LOPD were screened for 14 mutations that span exons 19 to 41 of the LRRK2 gene. Among the LOPD cases, 1 patient was found to harbor the R1441C mutation. He presented with typical features of PD at age of 58 years old and responded well to levodopa. We did not detect any of the 14 mutations in PSP, MSA, CBGD, and AP patients. We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of nonEuropean ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Parkinson maladie; Mutation
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie
ED :	Nervous system diseases; Parkinson disease; Mutation
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Mutación
LO :	INIST-20953.354000133412770180
ID :	06-0393863

Links to Exploration step

Pascal:06-0393863

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease</title>
<author><name sortKey="Tan, E K" sort="Tan, E K" uniqKey="Tan E" first="E. K." last="Tan">E. K. Tan</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Singapore General Hospital</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Division of Research, SingHealth</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Skipper, Lisa" sort="Skipper, Lisa" uniqKey="Skipper L" first="Lisa" last="Skipper">Lisa Skipper</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chua, Eva" sort="Chua, Eva" uniqKey="Chua E" first="Eva" last="Chua">Eva Chua</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Singapore General Hospital</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Division of Research, SingHealth</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wong, Meng Cheong" sort="Wong, Meng Cheong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name>
<affiliation><inist:fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name>
<affiliation><inist:fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kolatkar, Prasanna" sort="Kolatkar, Prasanna" uniqKey="Kolatkar P" first="Prasanna" last="Kolatkar">Prasanna Kolatkar</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Liu, Jian Jun" sort="Liu, Jian Jun" uniqKey="Liu J" first="Jian-Jun" last="Liu">Jian-Jun Liu</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0393863</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0393863 INIST</idno>
<idno type="RBID">Pascal:06-0393863</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001A81</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease</title>
<author><name sortKey="Tan, E K" sort="Tan, E K" uniqKey="Tan E" first="E. K." last="Tan">E. K. Tan</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Singapore General Hospital</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Division of Research, SingHealth</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Skipper, Lisa" sort="Skipper, Lisa" uniqKey="Skipper L" first="Lisa" last="Skipper">Lisa Skipper</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chua, Eva" sort="Chua, Eva" uniqKey="Chua E" first="Eva" last="Chua">Eva Chua</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Singapore General Hospital</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Division of Research, SingHealth</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wong, Meng Cheong" sort="Wong, Meng Cheong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name>
<affiliation><inist:fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name>
<affiliation><inist:fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bonnard, Carine" sort="Bonnard, Carine" uniqKey="Bonnard C" first="Carine" last="Bonnard">Carine Bonnard</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kolatkar, Prasanna" sort="Kolatkar, Prasanna" uniqKey="Kolatkar P" first="Prasanna" last="Kolatkar">Prasanna Kolatkar</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Liu, Jian Jun" sort="Liu, Jian Jun" uniqKey="Liu J" first="Jian-Jun" last="Liu">Jian-Jun Liu</name>
<affiliation><inist:fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</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>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies primarily focus on the common G2019S mutation. Analysis of a spectrum of LRRK2 mutations in Parkinson's Plus disorders has yet to be reported. We investigated 14 leucine-rich repeat kinase 2 (LRRK2) mutations in a cohort of Parkinson's Plus disorders and LOPD. A total of 458 patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal ganglionic degeneration (CBGD), atypical Parkinsonism (AP), and LOPD were screened for 14 mutations that span exons 19 to 41 of the LRRK2 gene. Among the LOPD cases, 1 patient was found to harbor the R1441C mutation. He presented with typical features of PD at age of 58 years old and responded well to levodopa. We did not detect any of the 14 mutations in PSP, MSA, CBGD, and AP patients. We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of nonEuropean ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>21</s2>
</fA05>
<fA06><s2>7</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>TAN (E. K.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>SKIPPER (Lisa)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>CHUA (Eva)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>WONG (Meng-Cheong)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>PAVANNI (Ratnagopal)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>BONNARD (Carine)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>KOLATKAR (Prasanna)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>LIU (Jian-Jun)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Singapore General Hospital</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Division of Research, SingHealth</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>National Neuroscience Institute, Population Genetics</s1>
<s3>SGP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Genome Institute of Singapore</s1>
<s3>SGP</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA20><s1>997-1001</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000133412770180</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>23 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0393863</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>The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies primarily focus on the common G2019S mutation. Analysis of a spectrum of LRRK2 mutations in Parkinson's Plus disorders has yet to be reported. We investigated 14 leucine-rich repeat kinase 2 (LRRK2) mutations in a cohort of Parkinson's Plus disorders and LOPD. A total of 458 patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal ganglionic degeneration (CBGD), atypical Parkinsonism (AP), and LOPD were screened for 14 mutations that span exons 19 to 41 of the LRRK2 gene. Among the LOPD cases, 1 patient was found to harbor the R1441C mutation. He presented with typical features of PD at age of 58 years old and responded well to levodopa. We did not detect any of the 14 mutations in PSP, MSA, CBGD, and AP patients. We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of nonEuropean ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.</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>002B17H</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>
<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>261</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 06-0393863 INIST</NO>
<ET>Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease</ET>
<AU>TAN (E. K.); SKIPPER (Lisa); CHUA (Eva); WONG (Meng-Cheong); PAVANNI (Ratnagopal); BONNARD (Carine); KOLATKAR (Prasanna); LIU (Jian-Jun)</AU>
<AF>Department of Neurology, Singapore General Hospital/Singapour (1 aut., 3 aut.); Division of Research, SingHealth/Singapour (1 aut., 3 aut.); National Neuroscience Institute, Population Genetics/Singapour (1 aut., 4 aut., 5 aut.); Genome Institute of Singapore/Singapour (2 aut., 6 aut., 7 aut., 8 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 7; Pp. 997-1001; Bibl. 23 ref.</SO>
<LA>Anglais</LA>
<EA>The pleomorphic pathology of postmortem LRRK2-positive patients and the frequent association with late-onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies primarily focus on the common G2019S mutation. Analysis of a spectrum of LRRK2 mutations in Parkinson's Plus disorders has yet to be reported. We investigated 14 leucine-rich repeat kinase 2 (LRRK2) mutations in a cohort of Parkinson's Plus disorders and LOPD. A total of 458 patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal ganglionic degeneration (CBGD), atypical Parkinsonism (AP), and LOPD were screened for 14 mutations that span exons 19 to 41 of the LRRK2 gene. Among the LOPD cases, 1 patient was found to harbor the R1441C mutation. He presented with typical features of PD at age of 58 years old and responded well to levodopa. We did not detect any of the 14 mutations in PSP, MSA, CBGD, and AP patients. We highlight the first case of LRRK2 R1441C mutation in late onset sporadic PD of nonEuropean ancestry. Furthermore, extensive mutational screen found LRRK2 mutations to be rare among patients who presented with PSP, MSA, CBGD, and AP.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Parkinson maladie; Mutation</FD>
<FG>Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Parkinson disease; Mutation</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Parkinson enfermedad; Mutación</SD>
<LO>INIST-20953.354000133412770180</LO>
<ID>06-0393863</ID>
</server>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001A81 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 001A81 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:06-0393863
   |texte=   Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

Source :

Descripteurs français

English descriptors

Abstract

Notice en format standard (ISO 2709)

Format Inist (serveur)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri