MovDisordV3, PascalFrancis, Corpus, bibRecord, 001975

Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia

Identifieur interne : 001975 ( PascalFrancis/Corpus ); précédent : 001974; suivant : 001976

Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia

Auteurs : Satoshi Kaneko ; Toshitaka Kawarai ; Edwin Yip ; Shabnam Salehi-Rad ; Christine Sato ; Antonio Orlacchio ; Giorgio Bernardi ; YAN LIANG ; Hiroshi Hasegawa ; Ekaterina Rogaeva ; Peter St George-Hyslop

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0518121

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Paraplégie spasmodique héréditaire Strumpell Lorrain, Mutation faux sens, Japonais.

English descriptors

KwdEn :
- Hereditary spastic paraplegia, Japanese, Missense mutation, Nervous system diseases.

Abstract

We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.

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 21`
A06				`@2 9`
A08	`01`	`1`	`ENG`	`@1 Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia`
A11	`01`	`1`		`@1 KANEKO (Satoshi)`
A11	`02`	`1`		`@1 KAWARAI (Toshitaka)`
A11	`03`	`1`		`@1 YIP (Edwin)`
A11	`04`	`1`		`@1 SALEHI-RAD (Shabnam)`
A11	`05`	`1`		`@1 SATO (Christine)`
A11	`06`	`1`		`@1 ORLACCHIO (Antonio)`
A11	`07`	`1`		`@1 BERNARDI (Giorgio)`
A11	`08`	`1`		`@1 YAN LIANG`
A11	`09`	`1`		`@1 HASEGAWA (Hiroshi)`
A11	`10`	`1`		`@1 ROGAEVA (Ekaterina)`
A11	`11`	`1`		`@1 ST GEORGE-HYSLOP (Peter)`
A14	`01`			`@1 Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute @2 Osaka @3 JPN @Z 1 aut.`
A14	`02`			`@1 Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto @2 Toronto, Ontario @3 CAN @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 8 aut. @Z 9 aut. @Z 10 aut. @Z 11 aut.`
A14	`03`			`@1 Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia @2 Rome @3 ITA @Z 6 aut. @Z 7 aut.`
A14	`04`			`@1 Dipartimento di Neuroscienze, Università di Roma "Tor Vergata", Policlinico "Tor Vergata" (Neurologia) @2 Rome @3 ITA @Z 6 aut. @Z 7 aut.`
A14	`05`			`@1 Department of Medicine, Division of Neurology, University of Toronto @2 Toronto, Ontario @3 CAN @Z 10 aut.`
A14	`06`			`@1 Department of Medicine, Division of Neurology, University Health Network @2 Toronto, Ontario @3 CAN @Z 11 aut.`
A20				`@1 1531-1533`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000158780860430`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 9 ref.`
A47	`01`	`1`		`@0 06-0518121`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	`@0 We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.`
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 Paraplégie spasmodique héréditaire Strumpell Lorrain @5 02`
C03	`02`	`X`	`ENG`	`@0 Hereditary spastic paraplegia @5 02`
C03	`02`	`X`	`SPA`	`@0 Paraplejía espasmódica hereditaria Strumpell Lorrain @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation faux sens @5 09`
C03	`03`	`X`	`ENG`	`@0 Missense mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación falso sentido @5 09`
C03	`04`	`X`	`FRE`	`@0 Japonais @5 10`
C03	`04`	`X`	`ENG`	`@0 Japanese @5 10`
C03	`04`	`X`	`SPA`	`@0 Japonés @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 Maladie dégénérative @5 38`
C07	`02`	`X`	`ENG`	`@0 Degenerative disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie héréditaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Genetic disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 39`
C07	`04`	`X`	`FRE`	`@0 Moelle épinière pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Spinal cord disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Médula espinal patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
N21				`@1 338`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0518121 INIST
ET :	Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia
AU :	KANEKO (Satoshi); KAWARAI (Toshitaka); YIP (Edwin); SALEHI-RAD (Shabnam); SATO (Christine); ORLACCHIO (Antonio); BERNARDI (Giorgio); YAN LIANG; HASEGAWA (Hiroshi); ROGAEVA (Ekaterina); ST GEORGE-HYSLOP (Peter)
AF :	Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute/Osaka/Japon (1 aut.); Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto/Toronto, Ontario/Canada (2 aut., 3 aut., 4 aut., 5 aut., 8 aut., 9 aut., 10 aut., 11 aut.); Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia/Rome/Italie (6 aut., 7 aut.); Dipartimento di Neuroscienze, Università di Roma "Tor Vergata", Policlinico "Tor Vergata" (Neurologia)/Rome/Italie (6 aut., 7 aut.); Department of Medicine, Division of Neurology, University of Toronto/Toronto, Ontario/Canada (10 aut.); Department of Medicine, Division of Neurology, University Health Network/Toronto, Ontario/Canada (11 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1531-1533; Bibl. 9 ref.
LA :	Anglais
EA :	We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Paraplégie spasmodique héréditaire Strumpell Lorrain; Mutation faux sens; Japonais
FG :	Encéphale pathologie; Maladie dégénérative; Maladie héréditaire; Moelle épinière pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Hereditary spastic paraplegia; Missense mutation; Japanese
EG :	Cerebral disorder; Degenerative disease; Genetic disease; Spinal cord disease; Central nervous system disease
SD :	Sistema nervioso patología; Paraplejía espasmódica hereditaria Strumpell Lorrain; Mutación falso sentido; Japonés
LO :	INIST-20953.354000158780860430
ID :	06-0518121

Links to Exploration step

Pascal:06-0518121

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia</title>
<author><name sortKey="Kaneko, Satoshi" sort="Kaneko, Satoshi" uniqKey="Kaneko S" first="Satoshi" last="Kaneko">Satoshi Kaneko</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute</s1>
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<author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name>
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<s2>Toronto, Ontario</s2>
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<author><name sortKey="Yip, Edwin" sort="Yip, Edwin" uniqKey="Yip E" first="Edwin" last="Yip">Edwin Yip</name>
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<author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
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<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<affiliation><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1>
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<author><name sortKey="Orlacchio, Antonio" sort="Orlacchio, Antonio" uniqKey="Orlacchio A" first="Antonio" last="Orlacchio">Antonio Orlacchio</name>
<affiliation><inist:fA14 i1="03"><s1>Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia</s1>
<s2>Rome</s2>
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</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Dipartimento di Neuroscienze, Università di Roma "Tor Vergata", Policlinico "Tor Vergata" (Neurologia)</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
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<author><name sortKey="Bernardi, Giorgio" sort="Bernardi, Giorgio" uniqKey="Bernardi G" first="Giorgio" last="Bernardi">Giorgio Bernardi</name>
<affiliation><inist:fA14 i1="03"><s1>Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia</s1>
<s2>Rome</s2>
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<affiliation><inist:fA14 i1="04"><s1>Dipartimento di Neuroscienze, Università di Roma "Tor Vergata", Policlinico "Tor Vergata" (Neurologia)</s1>
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<author><name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
<affiliation><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1>
<s2>Toronto, Ontario</s2>
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<author><name sortKey="Hasegawa, Hiroshi" sort="Hasegawa, Hiroshi" uniqKey="Hasegawa H" first="Hiroshi" last="Hasegawa">Hiroshi Hasegawa</name>
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<author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
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<author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name>
<affiliation><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto</s1>
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.</div>
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<sZ>10 aut.</sZ>
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<ET>Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia</ET>
<AU>KANEKO (Satoshi); KAWARAI (Toshitaka); YIP (Edwin); SALEHI-RAD (Shabnam); SATO (Christine); ORLACCHIO (Antonio); BERNARDI (Giorgio); YAN LIANG; HASEGAWA (Hiroshi); ROGAEVA (Ekaterina); ST GEORGE-HYSLOP (Peter)</AU>
<AF>Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute/Osaka/Japon (1 aut.); Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto/Toronto, Ontario/Canada (2 aut., 3 aut., 4 aut., 5 aut., 8 aut., 9 aut., 10 aut., 11 aut.); Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia/Rome/Italie (6 aut., 7 aut.); Dipartimento di Neuroscienze, Università di Roma "Tor Vergata", Policlinico "Tor Vergata" (Neurologia)/Rome/Italie (6 aut., 7 aut.); Department of Medicine, Division of Neurology, University of Toronto/Toronto, Ontario/Canada (10 aut.); Department of Medicine, Division of Neurology, University Health Network/Toronto, Ontario/Canada (11 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1531-1533; Bibl. 9 ref.</SO>
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<EA>We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.</EA>
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<EG>Cerebral disorder; Degenerative disease; Genetic disease; Spinal cord disease; Central nervous system disease</EG>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia

Novel SPG6 mutation p.A100T in a japanese family with autosomal dominant form of hereditary spastic paraplegia

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