MovDisordV3, PascalFrancis, Corpus, bibRecord, 001850

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

Identifieur interne : 001850 ( PascalFrancis/Corpus ); précédent : 001849; suivant : 001851

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

Auteurs : David Devos ; Isabelle Vuillaume ; Alix De Becdelievre ; Berengère De Martinville ; Claire-Marie Dhaenens ; Jean-Christophe Cuvellier ; Jean-Marie Cuisset ; Louis Vallee ; Marie-Pierre Lemaitre ; Hélène Bourteel ; Eric Hachulla ; Benoit Wallaert ; Alain Destee ; Luc Defebvre ; Bernard Sablonniere

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:07-0090889

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Chorée syndrome, Délétion, Thyroïde, Poumon.

English descriptors

KwdEn :
- Chorea, Deletion, Lung, Nervous system diseases, Thyroid gland.

Abstract

Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.

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 12`
A08	`01`	`1`	`ENG`	`@1 New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes`
A11	`01`	`1`		`@1 DEVOS (David)`
A11	`02`	`1`		`@1 VUILLAUME (Isabelle)`
A11	`03`	`1`		`@1 DE BECDELIEVRE (Alix)`
A11	`04`	`1`		`@1 DE MARTINVILLE (Berengère)`
A11	`05`	`1`		`@1 DHAENENS (Claire-Marie)`
A11	`06`	`1`		`@1 CUVELLIER (Jean-Christophe)`
A11	`07`	`1`		`@1 CUISSET (Jean-Marie)`
A11	`08`	`1`		`@1 VALLEE (Louis)`
A11	`09`	`1`		`@1 LEMAITRE (Marie-Pierre)`
A11	`10`	`1`		`@1 BOURTEEL (Hélène)`
A11	`11`	`1`		`@1 HACHULLA (Eric)`
A11	`12`	`1`		`@1 WALLAERT (Benoit)`
A11	`13`	`1`		`@1 DESTEE (Alain)`
A11	`14`	`1`		`@1 DEFEBVRE (Luc)`
A11	`15`	`1`		`@1 SABLONNIERE (Bernard)`
A14	`01`			`@1 Department of Neurology, EA 2683 MENRT @2 Lille @3 FRA @Z 1 aut. @Z 10 aut. @Z 13 aut. @Z 14 aut.`
A14	`02`			`@1 Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2 @2 Lille @3 FRA @Z 2 aut. @Z 3 aut. @Z 5 aut. @Z 15 aut.`
A14	`03`			`@1 Laboratory of medical genetics. Hôpital J. de Flandres @2 Lille @3 FRA @Z 4 aut.`
A14	`04`			`@1 Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2 @2 Lille @3 FRA @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 9 aut.`
A14	`05`			`@1 Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2 @2 Lille @3 FRA @Z 11 aut.`
A14	`06`			`@1 Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2 @2 Lille @3 FRA @Z 12 aut.`
A20				`@1 2237-2240`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145356790390`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 15 ref.`
A47	`01`	`1`		`@0 07-0090889`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.
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 Chorée syndrome @5 02`
C03	`02`	`X`	`ENG`	`@0 Chorea @5 02`
C03	`02`	`X`	`SPA`	`@0 Corea síndrome @5 02`
C03	`03`	`X`	`FRE`	`@0 Délétion @5 03`
C03	`03`	`X`	`ENG`	`@0 Deletion @5 03`
C03	`03`	`X`	`SPA`	`@0 Deleción @5 03`
C03	`04`	`X`	`FRE`	`@0 Thyroïde @5 09`
C03	`04`	`X`	`ENG`	`@0 Thyroid gland @5 09`
C03	`04`	`X`	`SPA`	`@0 Tiroides @5 09`
C03	`05`	`X`	`FRE`	`@0 Poumon @5 10`
C03	`05`	`X`	`ENG`	`@0 Lung @5 10`
C03	`05`	`X`	`SPA`	`@0 Pulmón @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 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @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`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`06`	`X`	`FRE`	`@0 Glande endocrine @5 42`
C07	`06`	`X`	`ENG`	`@0 Endocrine gland @5 42`
C07	`06`	`X`	`SPA`	`@0 Glándula endocrina @5 42`
C07	`07`	`X`	`FRE`	`@0 Appareil respiratoire @5 43`
C07	`07`	`X`	`ENG`	`@0 Respiratory system @5 43`
C07	`07`	`X`	`SPA`	`@0 Aparato respiratorio @5 43`
N21				`@1 057`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0090889 INIST
ET :	New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes
AU :	DEVOS (David); VUILLAUME (Isabelle); DE BECDELIEVRE (Alix); DE MARTINVILLE (Berengère); DHAENENS (Claire-Marie); CUVELLIER (Jean-Christophe); CUISSET (Jean-Marie); VALLEE (Louis); LEMAITRE (Marie-Pierre); BOURTEEL (Hélène); HACHULLA (Eric); WALLAERT (Benoit); DESTEE (Alain); DEFEBVRE (Luc); SABLONNIERE (Bernard)
AF :	Department of Neurology, EA 2683 MENRT/Lille/France (1 aut., 10 aut., 13 aut., 14 aut.); Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (2 aut., 3 aut., 5 aut., 15 aut.); Laboratory of medical genetics. Hôpital J. de Flandres/Lille/France (4 aut.); Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (6 aut., 7 aut., 8 aut., 9 aut.); Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (11 aut.); Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (12 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 12; Pp. 2237-2240; Bibl. 15 ref.
LA :	Anglais
EA :	Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Chorée syndrome; Délétion; Thyroïde; Poumon
FG :	Encéphale pathologie; Extrapyramidal syndrome; Mouvement involontaire; Système nerveux central pathologie; Trouble neurologique; Glande endocrine; Appareil respiratoire
ED :	Nervous system diseases; Chorea; Deletion; Thyroid gland; Lung
EG :	Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Central nervous system disease; Neurological disorder; Endocrine gland; Respiratory system
SD :	Sistema nervioso patología; Corea síndrome; Deleción; Tiroides; Pulmón
LO :	INIST-20953.354000145356790390
ID :	07-0090889

Links to Exploration step

Pascal:07-0090889

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes</title>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" first="Alix" last="De Becdelievre">Alix De Becdelievre</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Martinville, Berengere" sort="De Martinville, Berengere" uniqKey="De Martinville B" first="Berengère" last="De Martinville">Berengère De Martinville</name>
<affiliation><inist:fA14 i1="03"><s1>Laboratory of medical genetics. Hôpital J. de Flandres</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Cuvellier, Jean Christophe" sort="Cuvellier, Jean Christophe" uniqKey="Cuvellier J" first="Jean-Christophe" last="Cuvellier">Jean-Christophe Cuvellier</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Cuisset, Jean Marie" sort="Cuisset, Jean Marie" uniqKey="Cuisset J" first="Jean-Marie" last="Cuisset">Jean-Marie Cuisset</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vallee, Louis" sort="Vallee, Louis" uniqKey="Vallee L" first="Louis" last="Vallee">Louis Vallee</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lemaitre, Marie Pierre" sort="Lemaitre, Marie Pierre" uniqKey="Lemaitre M" first="Marie-Pierre" last="Lemaitre">Marie-Pierre Lemaitre</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destee</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">07-0090889</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 07-0090889 INIST</idno>
<idno type="RBID">Pascal:07-0090889</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001850</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes</title>
<author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" first="Alix" last="De Becdelievre">Alix De Becdelievre</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Martinville, Berengere" sort="De Martinville, Berengere" uniqKey="De Martinville B" first="Berengère" last="De Martinville">Berengère De Martinville</name>
<affiliation><inist:fA14 i1="03"><s1>Laboratory of medical genetics. Hôpital J. de Flandres</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Cuvellier, Jean Christophe" sort="Cuvellier, Jean Christophe" uniqKey="Cuvellier J" first="Jean-Christophe" last="Cuvellier">Jean-Christophe Cuvellier</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Cuisset, Jean Marie" sort="Cuisset, Jean Marie" uniqKey="Cuisset J" first="Jean-Marie" last="Cuisset">Jean-Marie Cuisset</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vallee, Louis" sort="Vallee, Louis" uniqKey="Vallee L" first="Louis" last="Vallee">Louis Vallee</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lemaitre, Marie Pierre" sort="Lemaitre, Marie Pierre" uniqKey="Lemaitre M" first="Marie-Pierre" last="Lemaitre">Marie-Pierre Lemaitre</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destee</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
<affiliation><inist:fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 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>Chorea</term>
<term>Deletion</term>
<term>Lung</term>
<term>Nervous system diseases</term>
<term>Thyroid gland</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Chorée syndrome</term>
<term>Délétion</term>
<term>Thyroïde</term>
<term>Poumon</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.</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>12</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>DEVOS (David)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>VUILLAUME (Isabelle)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>DE BECDELIEVRE (Alix)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>DE MARTINVILLE (Berengère)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>DHAENENS (Claire-Marie)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>CUVELLIER (Jean-Christophe)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>CUISSET (Jean-Marie)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>VALLEE (Louis)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>LEMAITRE (Marie-Pierre)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>BOURTEEL (Hélène)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>HACHULLA (Eric)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>WALLAERT (Benoit)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>DESTEE (Alain)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>DEFEBVRE (Luc)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>SABLONNIERE (Bernard)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Laboratory of medical genetics. Hôpital J. de Flandres</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA20><s1>2237-2240</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000145356790390</s5>
</fA43>
<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>07-0090889</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>Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.</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>Chorée syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Chorea</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Corea síndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Délétion</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Deletion</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Deleción</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Thyroïde</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Thyroid gland</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Tiroides</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Poumon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Lung</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Pulmón</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>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</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>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Glande endocrine</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Endocrine gland</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Glándula endocrina</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Appareil respiratoire</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Respiratory system</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Aparato respiratorio</s0>
<s5>43</s5>
</fC07>
<fN21><s1>057</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 07-0090889 INIST</NO>
<ET>New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes</ET>
<AU>DEVOS (David); VUILLAUME (Isabelle); DE BECDELIEVRE (Alix); DE MARTINVILLE (Berengère); DHAENENS (Claire-Marie); CUVELLIER (Jean-Christophe); CUISSET (Jean-Marie); VALLEE (Louis); LEMAITRE (Marie-Pierre); BOURTEEL (Hélène); HACHULLA (Eric); WALLAERT (Benoit); DESTEE (Alain); DEFEBVRE (Luc); SABLONNIERE (Bernard)</AU>
<AF>Department of Neurology, EA 2683 MENRT/Lille/France (1 aut., 10 aut., 13 aut., 14 aut.); Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (2 aut., 3 aut., 5 aut., 15 aut.); Laboratory of medical genetics. Hôpital J. de Flandres/Lille/France (4 aut.); Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (6 aut., 7 aut., 8 aut., 9 aut.); Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (11 aut.); Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2/Lille/France (12 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. 12; Pp. 2237-2240; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<EA>Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Chorée syndrome; Délétion; Thyroïde; Poumon</FD>
<FG>Encéphale pathologie; Extrapyramidal syndrome; Mouvement involontaire; Système nerveux central pathologie; Trouble neurologique; Glande endocrine; Appareil respiratoire</FG>
<ED>Nervous system diseases; Chorea; Deletion; Thyroid gland; Lung</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Central nervous system disease; Neurological disorder; Endocrine gland; Respiratory system</EG>
<SD>Sistema nervioso patología; Corea síndrome; Deleción; Tiroides; Pulmón</SD>
<LO>INIST-20953.354000145356790390</LO>
<ID>07-0090889</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 001850 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 001850 | 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:07-0090889
   |texte=   New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes
}}

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)

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

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