MovDisordV3, PascalFrancis, Corpus, bibRecord, 001982

Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease

Identifieur interne : 001982 ( PascalFrancis/Corpus ); précédent : 001981; suivant : 001983

Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease

Auteurs : Katja Hedrich ; Susen Winkler ; Johann Hagenah ; Kemal Kabakci ; Meike Kasten ; Eberhard Schwinger ; Jens Volkmann ; Peter P. Pramstaller ; Vladimir Kostic ; Peter Vieregge ; Christine Klein

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0518114

Descripteurs français

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

English descriptors

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

Abstract

Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.

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 9`
A08	`01`	`1`	`ENG`	`@1 Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease`
A11	`01`	`1`		`@1 HEDRICH (Katja)`
A11	`02`	`1`		`@1 WINKLER (Susen)`
A11	`03`	`1`		`@1 HAGENAH (Johann)`
A11	`04`	`1`		`@1 KABAKCI (Kemal)`
A11	`05`	`1`		`@1 KASTEN (Meike)`
A11	`06`	`1`		`@1 SCHWINGER (Eberhard)`
A11	`07`	`1`		`@1 VOLKMANN (Jens)`
A11	`08`	`1`		`@1 PRAMSTALLER (Peter P.)`
A11	`09`	`1`		`@1 KOSTIC (Vladimir)`
A11	`10`	`1`		`@1 VIEREGGE (Peter)`
A11	`11`	`1`		`@1 KLEIN (Christine)`
A14	`01`			`@1 Department of Neurology, University of Lubeck @2 Lübeck @3 DEU @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 10 aut. @Z 11 aut.`
A14	`02`			`@1 Department of Human Genetics, University of Lübeck @2 Lubeck @3 DEU @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 6 aut. @Z 11 aut.`
A14	`03`			`@1 Department of Neurology, Christian- Albrechts University @2 Kiel @3 DEU @Z 7 aut.`
A14	`04`			`@1 Department of Neurology, and Department of Genetic Medicine, Central Hospital, EURAC-Research @2 Bolzano-Bozen @3 ITA @Z 8 aut.`
A14	`05`			`@1 Department of Neurology, University of Belgrade @2 Belgrade @3 SCG @Z 9 aut.`
A14	`06`			`@1 Department of Neurology, Hospital Lippe-Lemgo @2 Lemgo @3 DEU @Z 10 aut.`
A20				`@1 1506-1510`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000158780860360`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 20 ref.`
A47	`01`	`1`		`@0 06-0518114`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.
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 Récidivant @5 09`
C03	`03`	`X`	`ENG`	`@0 Recurrent @5 09`
C03	`03`	`X`	`SPA`	`@0 Recidivante @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`
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				`@1 338`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0518114 INIST
ET :	Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease
AU :	HEDRICH (Katja); WINKLER (Susen); HAGENAH (Johann); KABAKCI (Kemal); KASTEN (Meike); SCHWINGER (Eberhard); VOLKMANN (Jens); PRAMSTALLER (Peter P.); KOSTIC (Vladimir); VIEREGGE (Peter); KLEIN (Christine)
AF :	Department of Neurology, University of Lubeck/Lübeck/Allemagne (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 10 aut., 11 aut.); Department of Human Genetics, University of Lübeck/Lubeck/Allemagne (1 aut., 2 aut., 4 aut., 6 aut., 11 aut.); Department of Neurology, Christian- Albrechts University/Kiel/Allemagne (7 aut.); Department of Neurology, and Department of Genetic Medicine, Central Hospital, EURAC-Research/Bolzano-Bozen/Italie (8 aut.); Department of Neurology, University of Belgrade/Belgrade/Serbie-et-Monténégro (9 aut.); Department of Neurology, Hospital Lippe-Lemgo/Lemgo/Allemagne (10 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1506-1510; Bibl. 20 ref.
LA :	Anglais
EA :	Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.
CC :	002B17; 002B17G; 002B17A03
FD :	Système nerveux pathologie; Parkinson maladie; Récidivant; Mutation
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie
ED :	Nervous system diseases; Parkinson disease; Recurrent; Mutation
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Recidivante; Mutación
LO :	INIST-20953.354000158780860360
ID :	06-0518114

Links to Exploration step

Pascal:06-0518114

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease</title>
<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Christian- Albrechts University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, and Department of Genetic Medicine, Central Hospital, EURAC-Research</s1>
<s2>Bolzano-Bozen</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Hospital Lippe-Lemgo</s1>
<s2>Lemgo</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0518114</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0518114 INIST</idno>
<idno type="RBID">Pascal:06-0518114</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001982</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease</title>
<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Christian- Albrechts University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, and Department of Genetic Medicine, Central Hospital, EURAC-Research</s1>
<s2>Bolzano-Bozen</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Hospital Lippe-Lemgo</s1>
<s2>Lemgo</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 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>
<term>Recurrent</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinson maladie</term>
<term>Récidivant</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.</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>9</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>HEDRICH (Katja)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WINKLER (Susen)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>HAGENAH (Johann)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>KABAKCI (Kemal)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>KASTEN (Meike)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>SCHWINGER (Eberhard)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>VOLKMANN (Jens)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>PRAMSTALLER (Peter P.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>KOSTIC (Vladimir)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>VIEREGGE (Peter)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>KLEIN (Christine)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, University of Lubeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Human Genetics, University of Lübeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Neurology, Christian- Albrechts University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, and Department of Genetic Medicine, Central Hospital, EURAC-Research</s1>
<s2>Bolzano-Bozen</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurology, Hospital Lippe-Lemgo</s1>
<s2>Lemgo</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA20><s1>1506-1510</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000158780860360</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>20 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0518114</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>Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.</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>Récidivant</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Recurrent</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Recidivante</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>
<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>338</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 06-0518114 INIST</NO>
<ET>Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease</ET>
<AU>HEDRICH (Katja); WINKLER (Susen); HAGENAH (Johann); KABAKCI (Kemal); KASTEN (Meike); SCHWINGER (Eberhard); VOLKMANN (Jens); PRAMSTALLER (Peter P.); KOSTIC (Vladimir); VIEREGGE (Peter); KLEIN (Christine)</AU>
<AF>Department of Neurology, University of Lubeck/Lübeck/Allemagne (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 10 aut., 11 aut.); Department of Human Genetics, University of Lübeck/Lubeck/Allemagne (1 aut., 2 aut., 4 aut., 6 aut., 11 aut.); Department of Neurology, Christian- Albrechts University/Kiel/Allemagne (7 aut.); Department of Neurology, and Department of Genetic Medicine, Central Hospital, EURAC-Research/Bolzano-Bozen/Italie (8 aut.); Department of Neurology, University of Belgrade/Belgrade/Serbie-et-Monténégro (9 aut.); Department of Neurology, Hospital Lippe-Lemgo/Lemgo/Allemagne (10 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1506-1510; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.</EA>
<CC>002B17; 002B17G; 002B17A03</CC>
<FD>Système nerveux pathologie; Parkinson maladie; Récidivant; Mutation</FD>
<FG>Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Parkinson disease; Recurrent; Mutation</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Parkinson enfermedad; Recidivante; Mutación</SD>
<LO>INIST-20953.354000158780860360</LO>
<ID>06-0518114</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 001982 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 001982 | 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:06-0518114
   |texte=   Recurrent LRRK2 (Park8) mutations in early-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)

Recurrent LRRK2 (Park8) mutations in early-onset parkinson's disease

Recurrent LRRK2 (Park8) mutations in early-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