MovDisordV3, PascalFrancis, Corpus, bibRecord, 001557

A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease

Identifieur interne : 001557 ( PascalFrancis/Corpus ); précédent : 001556; suivant : 001558

A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease

Auteurs : Dietrich Haubenberger ; Silvia Bonelli ; Christoph Hotzy ; Petra Leitner ; Peter Lichtner ; Doris Samal ; Regina Katzenschlager ; Atbin Djamshidian ; Thomas Brücke ; Michaela Steffelbauer ; Christian Bancher ; Josef Grossmann ; Gerhard Ransmayr ; Tim M. Strom ; Thomas Meitinger ; Thomas Gasser ; Eduard Auff ; Alexander Zimprich

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0448803

Descripteurs français

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

English descriptors

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

Abstract

To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
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A08	`01`	`1`	`ENG`	`@1 A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease`
A11	`01`	`1`		`@1 HAUBENBERGER (Dietrich)`
A11	`02`	`1`		`@1 BONELLI (Silvia)`
A11	`03`	`1`		`@1 HOTZY (Christoph)`
A11	`04`	`1`		`@1 LEITNER (Petra)`
A11	`05`	`1`		`@1 LICHTNER (Peter)`
A11	`06`	`1`		`@1 SAMAL (Doris)`
A11	`07`	`1`		`@1 KATZENSCHLAGER (Regina)`
A11	`08`	`1`		`@1 DJAMSHIDIAN (Atbin)`
A11	`09`	`1`		`@1 BRÜCKE (Thomas)`
A11	`10`	`1`		`@1 STEFFELBAUER (Michaela)`
A11	`11`	`1`		`@1 BANCHER (Christian)`
A11	`12`	`1`		`@1 GROSSMANN (Josef)`
A11	`13`	`1`		`@1 RANSMAYR (Gerhard)`
A11	`14`	`1`		`@1 STROM (Tim M.)`
A11	`15`	`1`		`@1 MEITINGER (Thomas)`
A11	`16`	`1`		`@1 GASSER (Thomas)`
A11	`17`	`1`		`@1 AUFF (Eduard)`
A11	`18`	`1`		`@1 ZIMPRICH (Alexander)`
A14	`01`			`@1 Department of Neurology, Medical University of Vienna @2 Vienna @3 AUT @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 6 aut. @Z 17 aut. @Z 18 aut.`
A14	`02`			`@1 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tiibingen @2 Tübingen @3 DEU @Z 4 aut. @Z 16 aut.`
A14	`03`			`@1 Institute of Human Genetics, GSF National Research Centre for Environment and Health @2 Neuherberg @3 DEU @Z 5 aut. @Z 14 aut. @Z 15 aut.`
A14	`04`			`@1 Department of Neurology, SMZ-Ost Donauspital @2 Vienna @3 AUT @Z 7 aut. @Z 8 aut.`
A14	`05`			`@1 Department of Neurology, Wilhelminenspital @2 Vienna @3 AUT @Z 9 aut.`
A14	`06`			`@1 Department of Neurology, Linz General Hospital @2 Linz @3 AUT @Z 10 aut. @Z 13 aut.`
A14	`07`			`@1 Department of Neurology, Waldviertelklinikum @2 Horn @3 AUT @Z 11 aut.`
A14	`08`			`@1 Department of Neurology, Bezirkskrankenhaus @2 Lienz @3 AUT @Z 11 aut.`
A14	`09`			`@1 Institute of Human Genetics, Klinikum rechts der Isar, Technical University @2 Munich @3 DEU @Z 12 aut. @Z 14 aut. @Z 15 aut.`
A20				`@1 1640-1643`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000149744800200`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
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A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17F`
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 Homme @5 10`
C03	`04`	`X`	`ENG`	`@0 Human @5 10`
C03	`04`	`X`	`SPA`	`@0 Hombre @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				`@1 295`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0448803 INIST
ET :	A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease
AU :	HAUBENBERGER (Dietrich); BONELLI (Silvia); HOTZY (Christoph); LEITNER (Petra); LICHTNER (Peter); SAMAL (Doris); KATZENSCHLAGER (Regina); DJAMSHIDIAN (Atbin); BRÜCKE (Thomas); STEFFELBAUER (Michaela); BANCHER (Christian); GROSSMANN (Josef); RANSMAYR (Gerhard); STROM (Tim M.); MEITINGER (Thomas); GASSER (Thomas); AUFF (Eduard); ZIMPRICH (Alexander)
AF :	Department of Neurology, Medical University of Vienna/Vienna/Autriche (1 aut., 2 aut., 3 aut., 6 aut., 17 aut., 18 aut.); Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tiibingen/Tübingen/Allemagne (4 aut., 16 aut.); Institute of Human Genetics, GSF National Research Centre for Environment and Health/Neuherberg/Allemagne (5 aut., 14 aut., 15 aut.); Department of Neurology, SMZ-Ost Donauspital/Vienna/Autriche (7 aut., 8 aut.); Department of Neurology, Wilhelminenspital/Vienna/Autriche (9 aut.); Department of Neurology, Linz General Hospital/Linz/Autriche (10 aut., 13 aut.); Department of Neurology, Waldviertelklinikum/Horn/Autriche (11 aut.); Department of Neurology, Bezirkskrankenhaus/Lienz/Autriche (11 aut.); Institute of Human Genetics, Klinikum rechts der Isar, Technical University/Munich/Allemagne (12 aut., 14 aut., 15 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1640-1643; Bibl. 18 ref.
LA :	Anglais
EA :	To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.
CC :	002B17; 002B17G; 002B17F
FD :	Système nerveux pathologie; Parkinson maladie; Mutation; Homme
FG :	Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie
ED :	Nervous system diseases; Parkinson disease; Mutation; Human
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Sistema nervioso patología; Parkinson enfermedad; Mutación; Hombre
LO :	INIST-20953.354000149744800200
ID :	07-0448803

Links to Exploration step

Pascal:07-0448803

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease</title>
<author><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name>
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<author><name sortKey="Bonelli, Silvia" sort="Bonelli, Silvia" uniqKey="Bonelli S" first="Silvia" last="Bonelli">Silvia Bonelli</name>
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<author><name sortKey="Hotzy, Christoph" sort="Hotzy, Christoph" uniqKey="Hotzy C" first="Christoph" last="Hotzy">Christoph Hotzy</name>
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<author><name sortKey="Leitner, Petra" sort="Leitner, Petra" uniqKey="Leitner P" first="Petra" last="Leitner">Petra Leitner</name>
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<author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name>
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<author><name sortKey="Djamshidian, Atbin" sort="Djamshidian, Atbin" uniqKey="Djamshidian A" first="Atbin" last="Djamshidian">Atbin Djamshidian</name>
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<author><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name>
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</affiliation>
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<author><name sortKey="Bancher, Christian" sort="Bancher, Christian" uniqKey="Bancher C" first="Christian" last="Bancher">Christian Bancher</name>
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<author><name sortKey="Ransmayr, Gerhard" sort="Ransmayr, Gerhard" uniqKey="Ransmayr G" first="Gerhard" last="Ransmayr">Gerhard Ransmayr</name>
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<s3>AUT</s3>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
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<author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name>
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<s2>Neuherberg</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="09"><s1>Institute of Human Genetics, Klinikum rechts der Isar, Technical University</s1>
<s2>Munich</s2>
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<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
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</affiliation>
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<author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name>
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<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
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<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
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<s3>AUT</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
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<front><div type="abstract" xml:lang="en">To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.</div>
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<ET>A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease</ET>
<AU>HAUBENBERGER (Dietrich); BONELLI (Silvia); HOTZY (Christoph); LEITNER (Petra); LICHTNER (Peter); SAMAL (Doris); KATZENSCHLAGER (Regina); DJAMSHIDIAN (Atbin); BRÜCKE (Thomas); STEFFELBAUER (Michaela); BANCHER (Christian); GROSSMANN (Josef); RANSMAYR (Gerhard); STROM (Tim M.); MEITINGER (Thomas); GASSER (Thomas); AUFF (Eduard); ZIMPRICH (Alexander)</AU>
<AF>Department of Neurology, Medical University of Vienna/Vienna/Autriche (1 aut., 2 aut., 3 aut., 6 aut., 17 aut., 18 aut.); Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tiibingen/Tübingen/Allemagne (4 aut., 16 aut.); Institute of Human Genetics, GSF National Research Centre for Environment and Health/Neuherberg/Allemagne (5 aut., 14 aut., 15 aut.); Department of Neurology, SMZ-Ost Donauspital/Vienna/Autriche (7 aut., 8 aut.); Department of Neurology, Wilhelminenspital/Vienna/Autriche (9 aut.); Department of Neurology, Linz General Hospital/Linz/Autriche (10 aut., 13 aut.); Department of Neurology, Waldviertelklinikum/Horn/Autriche (11 aut.); Department of Neurology, Bezirkskrankenhaus/Lienz/Autriche (11 aut.); Institute of Human Genetics, Klinikum rechts der Isar, Technical University/Munich/Allemagne (12 aut., 14 aut., 15 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1640-1643; Bibl. 18 ref.</SO>
<LA>Anglais</LA>
<EA>To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.</EA>
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<ED>Nervous system diseases; Parkinson disease; Mutation; Human</ED>
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<SD>Sistema nervioso patología; Parkinson enfermedad; Mutación; Hombre</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease

A novel LRRK2 mutation in an austrian cohort of patients with parkinson's disease

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