MovDisordV3, PascalFrancis, Corpus, bibRecord, 001168

A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia

Identifieur interne : 001168 ( PascalFrancis/Corpus ); précédent : 001167; suivant : 001169

A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia

Auteurs : Claudia Cagnoli ; Alessandro Brussino ; Luca Sbaiz ; Eleonora Di Gregorio ; Cristiana Atzori ; Paola Caroppo ; Laura Orsi ; Nicola Migone ; Carlo Buffa ; Daniele Imperiale ; Alfredo Brusco

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0417077

Descripteurs français

Pascal (Inist)
- Ataxie, Syndrome de Gerstmann-Sträussler-Scheinker, Démence, Pathologie du système nerveux, Homme, Maladie à prions, Prion.

English descriptors

KwdEn :
- Ataxia, Dementia, Gerstmann-Sträussler-Scheinker syndrome, Human, Nervous system diseases, Prion, Prion disease.

Abstract

Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A05				`@2 23`
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A08	`01`	`1`	`ENG`	`@1 A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia`
A11	`01`	`1`		`@1 CAGNOLI (Claudia)`
A11	`02`	`1`		`@1 BRUSSINO (Alessandro)`
A11	`03`	`1`		`@1 SBAIZ (Luca)`
A11	`04`	`1`		`@1 DI GREGORIO (Eleonora)`
A11	`05`	`1`		`@1 ATZORI (Cristiana)`
A11	`06`	`1`		`@1 CAROPPO (Paola)`
A11	`07`	`1`		`@1 ORSI (Laura)`
A11	`08`	`1`		`@1 MIGONE (Nicola)`
A11	`09`	`1`		`@1 BUFFA (Carlo)`
A11	`10`	`1`		`@1 IMPERIALE (Daniele)`
A11	`11`	`1`		`@1 BRUSCO (Alfredo)`
A14	`01`			`@1 Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista @2 Torino @3 ITA @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 8 aut. @Z 11 aut.`
A14	`02`			`@1 Azienda Ospedaliera S. Anna di Torino @3 ITA @Z 3 aut.`
A14	`03`			`@1 Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3 @2 Torino @3 ITA @Z 5 aut. @Z 9 aut. @Z 10 aut.`
A14	`04`			`@1 S.C.D.U. Neurologia I, Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista @2 Torino @3 ITA @Z 6 aut. @Z 7 aut.`
A20				`@1 1468-1471`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000196364640190`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
A45				`@0 6 ref.`
A47	`01`	`1`		`@0 08-0417077`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Ataxie @5 01`
C03	`01`	`X`	`ENG`	`@0 Ataxia @5 01`
C03	`01`	`X`	`SPA`	`@0 Ataxia @5 01`
C03	`02`	`X`	`FRE`	`@0 Syndrome de Gerstmann-Sträussler-Scheinker @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Gerstmann-Sträussler-Scheinker syndrome @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Gerstmann-Sträussler-Scheinker síndrome @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Démence @5 03`
C03	`03`	`X`	`ENG`	`@0 Dementia @5 03`
C03	`03`	`X`	`SPA`	`@0 Demencia @5 03`
C03	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 04`
C03	`04`	`X`	`ENG`	`@0 Nervous system diseases @5 04`
C03	`04`	`X`	`SPA`	`@0 Sistema nervioso patología @5 04`
C03	`05`	`X`	`FRE`	`@0 Homme @5 09`
C03	`05`	`X`	`ENG`	`@0 Human @5 09`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 09`
C03	`06`	`X`	`FRE`	`@0 Maladie à prions @2 NM @5 10`
C03	`06`	`X`	`ENG`	`@0 Prion disease @2 NM @5 10`
C03	`06`	`X`	`SPA`	`@0 Prion enfermedad @2 NM @5 10`
C03	`07`	`X`	`FRE`	`@0 Prion @5 78`
C03	`07`	`X`	`ENG`	`@0 Prion @5 78`
C03	`07`	`X`	`SPA`	`@0 Prion @5 78`
C07	`01`	`X`	`FRE`	`@0 Infection`
C07	`01`	`X`	`ENG`	`@0 Infection`
C07	`01`	`X`	`SPA`	`@0 Infección`
C07	`02`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`02`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`02`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 38`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`05`	`X`	`FRE`	`@0 Maladie dégénérative @5 42`
C07	`05`	`X`	`ENG`	`@0 Degenerative disease @5 42`
C07	`05`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 42`
N21				`@1 273`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 08-0417077 INIST
ET :	A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia
AU :	CAGNOLI (Claudia); BRUSSINO (Alessandro); SBAIZ (Luca); DI GREGORIO (Eleonora); ATZORI (Cristiana); CAROPPO (Paola); ORSI (Laura); MIGONE (Nicola); BUFFA (Carlo); IMPERIALE (Daniele); BRUSCO (Alfredo)
AF :	Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista/Torino/Italie (1 aut., 2 aut., 4 aut., 8 aut., 11 aut.); Azienda Ospedaliera S. Anna di Torino/Italie (3 aut.); Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3/Torino/Italie (5 aut., 9 aut., 10 aut.); S.C.D.U. Neurologia I, Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista/Torino/Italie (6 aut., 7 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 10; Pp. 1468-1471; Bibl. 6 ref.
LA :	Anglais
EA :	Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene.
CC :	002B17; 002B17G
FD :	Ataxie; Syndrome de Gerstmann-Sträussler-Scheinker; Démence; Pathologie du système nerveux; Homme; Maladie à prions; Prion
FG :	Infection; Pathologie de l'encéphale; Pathologie du système nerveux central; Trouble neurologique; Maladie dégénérative
ED :	Ataxia; Gerstmann-Sträussler-Scheinker syndrome; Dementia; Nervous system diseases; Human; Prion disease; Prion
EG :	Infection; Cerebral disorder; Central nervous system disease; Neurological disorder; Degenerative disease
SD :	Ataxia; Gerstmann-Sträussler-Scheinker síndrome; Demencia; Sistema nervioso patología; Hombre; Prion enfermedad; Prion
LO :	INIST-20953.354000196364640190
ID :	08-0417077

Links to Exploration step

Pascal:08-0417077

Le document en format XML

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<author><name sortKey="Buffa, Carlo" sort="Buffa, Carlo" uniqKey="Buffa C" first="Carlo" last="Buffa">Carlo Buffa</name>
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<author><name sortKey="Imperiale, Daniele" sort="Imperiale, Daniele" uniqKey="Imperiale D" first="Daniele" last="Imperiale">Daniele Imperiale</name>
<affiliation><inist:fA14 i1="03"><s1>Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3</s1>
<s2>Torino</s2>
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<author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia</title>
<author><name sortKey="Cagnoli, Claudia" sort="Cagnoli, Claudia" uniqKey="Cagnoli C" first="Claudia" last="Cagnoli">Claudia Cagnoli</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
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<author><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
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<author><name sortKey="Sbaiz, Luca" sort="Sbaiz, Luca" uniqKey="Sbaiz L" first="Luca" last="Sbaiz">Luca Sbaiz</name>
<affiliation><inist:fA14 i1="02"><s1>Azienda Ospedaliera S. Anna di Torino</s1>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
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</author>
<author><name sortKey="Di Gregorio, Eleonora" sort="Di Gregorio, Eleonora" uniqKey="Di Gregorio E" first="Eleonora" last="Di Gregorio">Eleonora Di Gregorio</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<author><name sortKey="Atzori, Cristiana" sort="Atzori, Cristiana" uniqKey="Atzori C" first="Cristiana" last="Atzori">Cristiana Atzori</name>
<affiliation><inist:fA14 i1="03"><s1>Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Caroppo, Paola" sort="Caroppo, Paola" uniqKey="Caroppo P" first="Paola" last="Caroppo">Paola Caroppo</name>
<affiliation><inist:fA14 i1="04"><s1>S.C.D.U. Neurologia I, Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Orsi, Laura" sort="Orsi, Laura" uniqKey="Orsi L" first="Laura" last="Orsi">Laura Orsi</name>
<affiliation><inist:fA14 i1="04"><s1>S.C.D.U. Neurologia I, Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Migone, Nicola" sort="Migone, Nicola" uniqKey="Migone N" first="Nicola" last="Migone">Nicola Migone</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Buffa, Carlo" sort="Buffa, Carlo" uniqKey="Buffa C" first="Carlo" last="Buffa">Carlo Buffa</name>
<affiliation><inist:fA14 i1="03"><s1>Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Imperiale, Daniele" sort="Imperiale, Daniele" uniqKey="Imperiale D" first="Daniele" last="Imperiale">Daniele Imperiale</name>
<affiliation><inist:fA14 i1="03"><s1>Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 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="2008">2008</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term>
<term>Dementia</term>
<term>Gerstmann-Sträussler-Scheinker syndrome</term>
<term>Human</term>
<term>Nervous system diseases</term>
<term>Prion</term>
<term>Prion disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term>
<term>Syndrome de Gerstmann-Sträussler-Scheinker</term>
<term>Démence</term>
<term>Pathologie du   système nerveux</term>
<term>Homme</term>
<term>Maladie à prions</term>
<term>Prion</term>
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<front><div type="abstract" xml:lang="en">Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia</s1>
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<fA11 i1="05" i2="1"><s1>ATZORI (Cristiana)</s1>
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<fA11 i1="08" i2="1"><s1>MIGONE (Nicola)</s1>
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<fA11 i1="09" i2="1"><s1>BUFFA (Carlo)</s1>
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<fA11 i1="10" i2="1"><s1>IMPERIALE (Daniele)</s1>
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<fA11 i1="11" i2="1"><s1>BRUSCO (Alfredo)</s1>
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<fA14 i1="01"><s1>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
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<fA14 i1="02"><s1>Azienda Ospedaliera S. Anna di Torino</s1>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
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<fA14 i1="03"><s1>Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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<fA14 i1="04"><s1>S.C.D.U. Neurologia I, Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista</s1>
<s2>Torino</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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<fA20><s1>1468-1471</s1>
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<s1>© 2008 INIST-CNRS. All rights reserved.</s1>
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<fC01 i1="01" l="ENG"><s0>Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene.</s0>
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<s5>01</s5>
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<s5>01</s5>
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<fC03 i1="02" i2="X" l="FRE"><s0>Syndrome de Gerstmann-Sträussler-Scheinker</s0>
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<s5>02</s5>
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<s5>02</s5>
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<s2>NM</s2>
<s5>02</s5>
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<fC03 i1="03" i2="X" l="FRE"><s0>Démence</s0>
<s5>03</s5>
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<fC03 i1="03" i2="X" l="ENG"><s0>Dementia</s0>
<s5>03</s5>
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<fC03 i1="03" i2="X" l="SPA"><s0>Demencia</s0>
<s5>03</s5>
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<fC03 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>04</s5>
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<fC03 i1="04" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>04</s5>
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<fC03 i1="04" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>04</s5>
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<fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0>
<s5>09</s5>
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<s5>09</s5>
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<s5>09</s5>
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<fC03 i1="06" i2="X" l="FRE"><s0>Maladie à prions</s0>
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<s5>10</s5>
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<fC03 i1="06" i2="X" l="ENG"><s0>Prion disease</s0>
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<s5>37</s5>
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<s5>37</s5>
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<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>38</s5>
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<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
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<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
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<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>42</s5>
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<fC07 i1="05" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>42</s5>
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<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>42</s5>
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<fN21><s1>273</s1>
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<fN82><s1>OTO</s1>
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<server><NO>PASCAL 08-0417077 INIST</NO>
<ET>A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia</ET>
<AU>CAGNOLI (Claudia); BRUSSINO (Alessandro); SBAIZ (Luca); DI GREGORIO (Eleonora); ATZORI (Cristiana); CAROPPO (Paola); ORSI (Laura); MIGONE (Nicola); BUFFA (Carlo); IMPERIALE (Daniele); BRUSCO (Alfredo)</AU>
<AF>Department of Genetics, Biology and Biochemistry, University of Torino, Medical Genetics Unit, Az. Osp. San Giovanni Battista/Torino/Italie (1 aut., 2 aut., 4 aut., 8 aut., 11 aut.); Azienda Ospedaliera S. Anna di Torino/Italie (3 aut.); Centro Diagnosi Osservazione Malattie Prioni D.O.M.P. -A.S.L.3/Torino/Italie (5 aut., 9 aut., 10 aut.); S.C.D.U. Neurologia I, Dipartimento di Neuroscienze, Az. Osp. San Giovanni Battista/Torino/Italie (6 aut., 7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 10; Pp. 1468-1471; Bibl. 6 ref.</SO>
<LA>Anglais</LA>
<EA>Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V210I) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene.</EA>
<CC>002B17; 002B17G</CC>
<FD>Ataxie; Syndrome de Gerstmann-Sträussler-Scheinker; Démence; Pathologie du   système nerveux; Homme; Maladie à prions; Prion</FD>
<FG>Infection; Pathologie de l'encéphale; Pathologie du système nerveux central; Trouble neurologique; Maladie dégénérative</FG>
<ED>Ataxia; Gerstmann-Sträussler-Scheinker syndrome; Dementia; Nervous system diseases; Human; Prion disease; Prion</ED>
<EG>Infection; Cerebral disorder; Central nervous system disease; Neurological disorder; Degenerative disease</EG>
<SD>Ataxia; Gerstmann-Sträussler-Scheinker síndrome; Demencia; Sistema nervioso patología; Hombre; Prion enfermedad; Prion</SD>
<LO>INIST-20953.354000196364640190</LO>
<ID>08-0417077</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia

A Previously Undiagnosed Case of Gerstmann-Sträussler-Scheinker Disease Revealed by Prnp Gene Analysis in Patients with Adult-Onset Ataxia

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