MovDisordV3, PascalFrancis, Corpus, bibRecord, 000B55

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

Identifieur interne : 000B55 ( PascalFrancis/Corpus ); précédent : 000B54; suivant : 000B56

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

Auteurs : Joyce Van De Leemput ; Fabienne Wavrant-De Vrieze ; Ian Rafferty ; Jose M. Bras ; Paola Giunti ; Elizabeth Mc Fisher ; John A. Hardy ; Andrew B. Singleton ; Henry Houlden

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0233145

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Séquence nucléotide, Séquençage, Ataxie spinocérébelleuse, Inositol, Récepteur biologique.

English descriptors

KwdEn :
- Biological receptor, Inositol, Nervous system diseases, Nucleotide sequence, Sequencing, Spinocerebellar ataxia.

Abstract

Spinocerebellar ataxia type 15 and 16 (SCA15/ 16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2-3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosphate receptor type 1 (ITPRI) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPRI in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPRI are at best a rare cause of ADCA III.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
A05				`@2 25`
A06				`@2 6`
A08	`01`	`1`	`ENG`	`@1 Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series`
A11	`01`	`1`		`@1 VAN DE LEEMPUT (Joyce)`
A11	`02`	`1`		`@1 WAVRANT-DE VRIEZE (Fabienne)`
A11	`03`	`1`		`@1 RAFFERTY (Ian)`
A11	`04`	`1`		`@1 BRAS (Jose M.)`
A11	`05`	`1`		`@1 GIUNTI (Paola)`
A11	`06`	`1`		`@1 FISHER (Elizabeth Mc)`
A11	`07`	`1`		`@1 HARDY (John A.)`
A11	`08`	`1`		`@1 SINGLETON (Andrew B.)`
A11	`09`	`1`		`@1 HOULDEN (Henry)`
A14	`01`			`@1 Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health @2 Bethesda, Maryland @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 8 aut.`
A14	`02`			`@1 Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House @2 London @3 GBR @Z 1 aut. @Z 5 aut. @Z 7 aut. @Z 9 aut.`
A14	`03`			`@1 Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House @2 London @3 GBR @Z 1 aut. @Z 6 aut.`
A20				`@1 771-773`
A21				`@1 2010`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000181078480170`
A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
A45				`@0 8 ref.`
A47	`01`	`1`		`@0 10-0233145`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Spinocerebellar ataxia type 15 and 16 (SCA15/ 16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2-3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosphate receptor type 1 (ITPRI) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPRI in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPRI are at best a rare cause of ADCA III.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Pathologie du système nerveux @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 Séquence nucléotide @5 09`
C03	`02`	`X`	`ENG`	`@0 Nucleotide sequence @5 09`
C03	`02`	`X`	`SPA`	`@0 Secuencia nucleótido @5 09`
C03	`03`	`X`	`FRE`	`@0 Séquençage @5 10`
C03	`03`	`X`	`ENG`	`@0 Sequencing @5 10`
C03	`03`	`X`	`SPA`	`@0 Sequencing @5 10`
C03	`04`	`X`	`FRE`	`@0 Ataxie spinocérébelleuse @2 NM @5 11`
C03	`04`	`X`	`ENG`	`@0 Spinocerebellar ataxia @2 NM @5 11`
C03	`04`	`X`	`SPA`	`@0 Ataxia spinocerebelosa @2 NM @5 11`
C03	`05`	`X`	`FRE`	`@0 Inositol @2 NK @2 FR @5 12`
C03	`05`	`X`	`ENG`	`@0 Inositol @2 NK @2 FR @5 12`
C03	`05`	`X`	`SPA`	`@0 Inositol @2 NK @2 FR @5 12`
C03	`06`	`X`	`FRE`	`@0 Récepteur biologique @5 13`
C03	`06`	`X`	`ENG`	`@0 Biological receptor @5 13`
C03	`06`	`X`	`SPA`	`@0 Receptor biológico @5 13`
C07	`01`	`X`	`FRE`	`@0 Maladie dégénérative @5 37`
C07	`01`	`X`	`ENG`	`@0 Degenerative disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie héréditaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Genetic disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 39`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 39`
N21				`@1 158`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0233145 INIST
ET :	Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series
AU :	VAN DE LEEMPUT (Joyce); WAVRANT-DE VRIEZE (Fabienne); RAFFERTY (Ian); BRAS (Jose M.); GIUNTI (Paola); FISHER (Elizabeth Mc); HARDY (John A.); SINGLETON (Andrew B.); HOULDEN (Henry)
AF :	Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health/Bethesda, Maryland/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 8 aut.); Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House/London/Royaume-Uni (1 aut., 5 aut., 7 aut., 9 aut.); Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House/London/Royaume-Uni (1 aut., 6 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 6; Pp. 771-773; Bibl. 8 ref.
LA :	Anglais
EA :	Spinocerebellar ataxia type 15 and 16 (SCA15/ 16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2-3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosphate receptor type 1 (ITPRI) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPRI in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPRI are at best a rare cause of ADCA III.
CC :	002B17; 002B17G
FD :	Pathologie du système nerveux; Séquence nucléotide; Séquençage; Ataxie spinocérébelleuse; Inositol; Récepteur biologique
FG :	Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central
ED :	Nervous system diseases; Nucleotide sequence; Sequencing; Spinocerebellar ataxia; Inositol; Biological receptor
EG :	Degenerative disease; Genetic disease; Central nervous system disease
SD :	Sistema nervioso patología; Secuencia nucleótido; Sequencing; Ataxia spinocerebelosa; Inositol; Receptor biológico
LO :	INIST-20953.354000181078480170
ID :	10-0233145

Links to Exploration step

Pascal:10-0233145

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series</title>
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<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
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<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
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<term>Sequencing</term>
<term>Spinocerebellar ataxia</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Séquence nucléotide</term>
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<front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 15 and 16 (SCA15/ 16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2-3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosphate receptor type 1 (ITPRI) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPRI in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPRI are at best a rare cause of ADCA III.</div>
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<server><NO>PASCAL 10-0233145 INIST</NO>
<ET>Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series</ET>
<AU>VAN DE LEEMPUT (Joyce); WAVRANT-DE VRIEZE (Fabienne); RAFFERTY (Ian); BRAS (Jose M.); GIUNTI (Paola); FISHER (Elizabeth Mc); HARDY (John A.); SINGLETON (Andrew B.); HOULDEN (Henry)</AU>
<AF>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health/Bethesda, Maryland/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 8 aut.); Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House/London/Royaume-Uni (1 aut., 5 aut., 7 aut., 9 aut.); Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House/London/Royaume-Uni (1 aut., 6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 6; Pp. 771-773; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>Spinocerebellar ataxia type 15 and 16 (SCA15/ 16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2-3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosphate receptor type 1 (ITPRI) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPRI in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPRI are at best a rare cause of ADCA III.</EA>
<CC>002B17; 002B17G</CC>
<FD>Pathologie du   système nerveux; Séquence nucléotide; Séquençage; Ataxie spinocérébelleuse; Inositol; Récepteur biologique</FD>
<FG>Maladie dégénérative; Maladie héréditaire; Pathologie du   système nerveux central</FG>
<ED>Nervous system diseases; Nucleotide sequence; Sequencing; Spinocerebellar ataxia; Inositol; Biological receptor</ED>
<EG>Degenerative disease; Genetic disease; Central nervous system disease</EG>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

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