MovDisordV3, PascalFrancis, Corpus, bibRecord, 001D27

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

Identifieur interne : 001D27 ( PascalFrancis/Corpus ); précédent : 001D26; suivant : 001D28

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

Auteurs : Chiara Criscuolo ; Francesco Sacca ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José Berciano

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:06-0001786

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Ataxie, Mutation, Espagnol.

English descriptors

KwdEn :
- Ataxia, Mutation, Nervous system diseases, Spanish.

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.

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 20`
A06				`@2 10`
A08	`01`	`1`	`ENG`	`@1 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia`
A11	`01`	`1`		`@1 CRISCUOLO (Chiara)`
A11	`02`	`1`		`@1 SACCA (Francesco)`
A11	`03`	`1`		`@1 DE MICHELE (Giuseppe)`
A11	`04`	`1`		`@1 MANCINI (Pietro)`
A11	`05`	`1`		`@1 COMBARROS (Onofre)`
A11	`06`	`1`		`@1 INFANTE (Jon)`
A11	`07`	`1`		`@1 GARCIA (Antonio)`
A11	`08`	`1`		`@1 BANFI (Sandro)`
A11	`09`	`1`		`@1 FILLA (Alessandro)`
A11	`10`	`1`		`@1 BERCIANO (José)`
A14	`01`			`@1 Department of Neurological Sciences, Federico 11 University @2 Naples @3 ITA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 9 aut.`
A14	`02`			`@1 Telethon Institute of Genetics and Medicine @2 Naples @3 ITA @Z 1 aut. @Z 8 aut.`
A14	`03`			`@1 Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria @2 Santander @3 ESP @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 10 aut.`
A20				`@1 1358-1361`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000135138750160`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 12 ref.`
A47	`01`	`1`		`@0 06-0001786`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.
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 Ataxie @5 02`
C03	`02`	`X`	`ENG`	`@0 Ataxia @5 02`
C03	`02`	`X`	`SPA`	`@0 Ataxia @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 Espagnol @5 10`
C03	`04`	`X`	`ENG`	`@0 Spanish @5 10`
C03	`04`	`X`	`SPA`	`@0 Español @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 Système nerveux central pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`03`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
N21				`@1 002`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 06-0001786 INIST
ET :	Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
AU :	CRISCUOLO (Chiara); SACCA (Francesco); DE MICHELE (Giuseppe); MANCINI (Pietro); COMBARROS (Onofre); INFANTE (Jon); GARCIA (Antonio); BANFI (Sandro); FILLA (Alessandro); BERCIANO (José)
AF :	Department of Neurological Sciences, Federico 11 University/Naples/Italie (1 aut., 2 aut., 3 aut., 4 aut., 9 aut.); Telethon Institute of Genetics and Medicine/Naples/Italie (1 aut., 8 aut.); Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria/Santander/Espagne (5 aut., 6 aut., 7 aut., 10 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 10; Pp. 1358-1361; Bibl. 12 ref.
LA :	Anglais
EA :	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.
CC :	002B17; 002B17G; 002B17H
FD :	Système nerveux pathologie; Ataxie; Mutation; Espagnol
FG :	Encéphale pathologie; Système nerveux central pathologie; Trouble neurologique
ED :	Nervous system diseases; Ataxia; Mutation; Spanish
EG :	Cerebral disorder; Central nervous system disease; Neurological disorder
SD :	Sistema nervioso patología; Ataxia; Mutación; Español
LO :	INIST-20953.354000135138750160
ID :	06-0001786

Links to Exploration step

Pascal:06-0001786

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia</title>
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<author><name sortKey="Sacca, Francesco" sort="Sacca, Francesco" uniqKey="Sacca F" first="Francesco" last="Sacca">Francesco Sacca</name>
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<author><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name>
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<author><name sortKey="Banfi, Sandro" sort="Banfi, Sandro" uniqKey="Banfi S" first="Sandro" last="Banfi">Sandro Banfi</name>
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<author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name>
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<author><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name>
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.</div>
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<fA11 i1="01" i2="1"><s1>CRISCUOLO (Chiara)</s1>
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<ET>Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia</ET>
<AU>CRISCUOLO (Chiara); SACCA (Francesco); DE MICHELE (Giuseppe); MANCINI (Pietro); COMBARROS (Onofre); INFANTE (Jon); GARCIA (Antonio); BANFI (Sandro); FILLA (Alessandro); BERCIANO (José)</AU>
<AF>Department of Neurological Sciences, Federico 11 University/Naples/Italie (1 aut., 2 aut., 3 aut., 4 aut., 9 aut.); Telethon Institute of Genetics and Medicine/Naples/Italie (1 aut., 8 aut.); Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria/Santander/Espagne (5 aut., 6 aut., 7 aut., 10 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 10; Pp. 1358-1361; Bibl. 12 ref.</SO>
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<EA>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.</EA>
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<FD>Système nerveux pathologie; Ataxie; Mutation; Espagnol</FD>
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<ED>Nervous system diseases; Ataxia; Mutation; Spanish</ED>
<EG>Cerebral disorder; Central nervous system disease; Neurological disorder</EG>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

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