MovDisordV3, PascalFrancis, Corpus, bibRecord, 002217

Mutational analysis of neurotensin in familial restless legs syndrome

Identifieur interne : 002217 ( PascalFrancis/Corpus ); précédent : 002216; suivant : 002218

Mutational analysis of neurotensin in familial restless legs syndrome

Auteurs : Alex Desautels ; Gustavo Turecki ; LAN XIONG ; Daniel Rochefort ; Jacques Montplaisir ; Guy A. Rouleau

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:04-0234530

Descripteurs français

Pascal (Inist)
- Impatience membre inférieur syndrome, Neurotensine, Système nerveux pathologie.

English descriptors

KwdEn :
- Nervous system diseases, Neurotensin, Restless legs syndrome.

Abstract

A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5' untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families.

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 19`
A06				`@2 1`
A08	`01`	`1`	`ENG`	`@1 Mutational analysis of neurotensin in familial restless legs syndrome`
A11	`01`	`1`		`@1 DESAUTELS (Alex)`
A11	`02`	`1`		`@1 TURECKI (Gustavo)`
A11	`03`	`1`		`@1 LAN XIONG`
A11	`04`	`1`		`@1 ROCHEFORT (Daniel)`
A11	`05`	`1`		`@1 MONTPLAISIR (Jacques)`
A11	`06`	`1`		`@1 ROULEAU (Guy A.)`
A14	`01`			`@1 Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal @2 Québec @3 CAN @Z 1 aut. @Z 5 aut.`
A14	`02`			`@1 Research Centre, Douglas Hospital, McGill University @2 Québec @3 CAN @Z 1 aut. @Z 2 aut. @Z 6 aut.`
A14	`03`			`@1 Centre for Research in Neuroscience, Montreal General Hospital, McGill University @2 Québec @3 CAN @Z 3 aut. @Z 4 aut. @Z 6 aut.`
A20				`@1 90-94`
A21				`@1 2004`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000111549200150`
A44				`@0 0000 @1 © 2004 INIST-CNRS. All rights reserved.`
A45				`@0 23 ref.`
A47	`01`	`1`		`@0 04-0234530`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5' untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families.
C02	`01`	`X`		`@0 002B17`
C03	`01`	`X`	`FRE`	`@0 Impatience membre inférieur syndrome @5 01`
C03	`01`	`X`	`ENG`	`@0 Restless legs syndrome @5 01`
C03	`01`	`X`	`SPA`	`@0 Acroparestesia nocturna @5 01`
C03	`02`	`X`	`FRE`	`@0 Neurotensine @5 02`
C03	`02`	`X`	`ENG`	`@0 Neurotensin @5 02`
C03	`02`	`X`	`SPA`	`@0 Neurotensina @5 02`
C03	`03`	`X`	`FRE`	`@0 Système nerveux pathologie @5 04`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 04`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 04`
C07	`01`	`X`	`FRE`	`@0 Neuropeptide @5 37`
C07	`01`	`X`	`ENG`	`@0 Neuropeptide @5 37`
C07	`01`	`X`	`SPA`	`@0 Neuropéptido @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
C07	`03`	`X`	`FRE`	`@0 Trouble sensibilité @5 39`
C07	`03`	`X`	`ENG`	`@0 Sensitivity disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Trastorno sensibilidad @5 39`
N21				`@1 152`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 04-0234530 INIST
ET :	Mutational analysis of neurotensin in familial restless legs syndrome
AU :	DESAUTELS (Alex); TURECKI (Gustavo); LAN XIONG; ROCHEFORT (Daniel); MONTPLAISIR (Jacques); ROULEAU (Guy A.)
AF :	Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal/Québec/Canada (1 aut., 5 aut.); Research Centre, Douglas Hospital, McGill University/Québec/Canada (1 aut., 2 aut., 6 aut.); Centre for Research in Neuroscience, Montreal General Hospital, McGill University/Québec/Canada (3 aut., 4 aut., 6 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 1; Pp. 90-94; Bibl. 23 ref.
LA :	Anglais
EA :	A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5' untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families.
CC :	002B17
FD :	Impatience membre inférieur syndrome; Neurotensine; Système nerveux pathologie
FG :	Neuropeptide; Trouble neurologique; Trouble sensibilité
ED :	Restless legs syndrome; Neurotensin; Nervous system diseases
EG :	Neuropeptide; Neurological disorder; Sensitivity disorder
SD :	Acroparestesia nocturna; Neurotensina; Sistema nervioso patología
LO :	INIST-20953.354000111549200150
ID :	04-0234530

Links to Exploration step

Pascal:04-0234530

Le document en format XML

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<front><div type="abstract" xml:lang="en">A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5' untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families.</div>
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<ET>Mutational analysis of neurotensin in familial restless legs syndrome</ET>
<AU>DESAUTELS (Alex); TURECKI (Gustavo); LAN XIONG; ROCHEFORT (Daniel); MONTPLAISIR (Jacques); ROULEAU (Guy A.)</AU>
<AF>Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal/Québec/Canada (1 aut., 5 aut.); Research Centre, Douglas Hospital, McGill University/Québec/Canada (1 aut., 2 aut., 6 aut.); Centre for Research in Neuroscience, Montreal General Hospital, McGill University/Québec/Canada (3 aut., 4 aut., 6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 1; Pp. 90-94; Bibl. 23 ref.</SO>
<LA>Anglais</LA>
<EA>A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5' untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families.</EA>
<CC>002B17</CC>
<FD>Impatience membre inférieur syndrome; Neurotensine; Système nerveux pathologie</FD>
<FG>Neuropeptide; Trouble neurologique; Trouble sensibilité</FG>
<ED>Restless legs syndrome; Neurotensin; Nervous system diseases</ED>
<EG>Neuropeptide; Neurological disorder; Sensitivity disorder</EG>
<SD>Acroparestesia nocturna; Neurotensina; Sistema nervioso patología</SD>
<LO>INIST-20953.354000111549200150</LO>
<ID>04-0234530</ID>
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</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutational analysis of neurotensin in familial restless legs syndrome

Mutational analysis of neurotensin in familial restless legs syndrome

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