MovDisordV3, PascalFrancis, Curation, bibRecord, 001059

Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients

Identifieur interne : 001059 ( PascalFrancis/Curation ); précédent : 001058; suivant : 001060

Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients

Auteurs : Natasa T. Dragasevic [Serbie] ; Biljana Culjkovic [Serbie] ; Christine Klein [Allemagne] ; Aleksandar Ristic [Serbie] ; Milica Keckarevic [Serbie] ; Ivan Topisirovic [Serbie] ; Slobodanka Vukosavic [Serbie] ; Marina Svetel [Serbie] ; Norman Kock [Allemagne] ; Elka Stefanova [Serbie] ; Stanka Romac [Serbie] ; Vladimir S. Kostic [Serbie]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0171943

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Ataxie spinocérébelleuse, Homme, Ataxie cérébelleuse.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Cerebellar ataxia, Human, Nervous system diseases, Spinocerebellar ataxia.

Abstract

The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1-3, 6-8, 12, 17; dentate-rubro-pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult-onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia-causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult-onset ataxia.

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A08	`01`	`1`	`ENG`	`@1 Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients`
A11	`01`	`1`		`@1 DRAGASEVIC (Natasa T.)`
A11	`02`	`1`		`@1 CULJKOVIC (Biljana)`
A11	`03`	`1`		`@1 KLEIN (Christine)`
A11	`04`	`1`		`@1 RISTIC (Aleksandar)`
A11	`05`	`1`		`@1 KECKAREVIC (Milica)`
A11	`06`	`1`		`@1 TOPISIROVIC (Ivan)`
A11	`07`	`1`		`@1 VUKOSAVIC (Slobodanka)`
A11	`08`	`1`		`@1 SVETEL (Marina)`
A11	`09`	`1`		`@1 KOCK (Norman)`
A11	`10`	`1`		`@1 STEFANOVA (Elka)`
A11	`11`	`1`		`@1 ROMAC (Stanka)`
A11	`12`	`1`		`@1 KOSTIC (Vladimir S.)`
A14	`01`			`@1 Institute of Neurology CCS, Medical School, University of Belgrade @2 Belgrade @3 SCG @Z 1 aut. @Z 4 aut. @Z 8 aut. @Z 10 aut. @Z 12 aut.`
A14	`02`			`@1 PCR Center, Faculty of Biology, University of Belgrade @2 Belgrade @3 SCG @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 11 aut.`
A14	`03`			`@1 Departments of Neurology, University of Liibeck @2 Lubeck @3 DEU @Z 3 aut. @Z 9 aut.`
A20				`@1 187-191`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000153398400080`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
A45				`@0 31 ref.`
A47	`01`	`1`		`@0 06-0171943`
A60				`@1 P`
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A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1-3, 6-8, 12, 17; dentate-rubro-pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult-onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia-causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult-onset ataxia.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17F`
C02	`03`	`X`		`@0 002B16B`
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 spinocérébelleuse @2 NM @5 09`
C03	`02`	`X`	`ENG`	`@0 Spinocerebellar ataxia @2 NM @5 09`
C03	`02`	`X`	`SPA`	`@0 Ataxia spinocerebelosa @2 NM @5 09`
C03	`03`	`X`	`FRE`	`@0 Homme @5 10`
C03	`03`	`X`	`ENG`	`@0 Human @5 10`
C03	`03`	`X`	`SPA`	`@0 Hombre @5 10`
C03	`04`	`X`	`FRE`	`@0 Ataxie cérébelleuse @2 NM @5 11`
C03	`04`	`X`	`ENG`	`@0 Cerebellar ataxia @2 NM @5 11`
C03	`04`	`X`	`SPA`	`@0 Ataxia cerebelosa @2 NM @5 11`
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 Système nerveux central pathologie @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				`@1 107`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:06-0171943

Le document en format XML

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<author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S." last="Kostic">Vladimir S. Kostic</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients</title>
<author><name sortKey="Dragasevic, Natasa T" sort="Dragasevic, Natasa T" uniqKey="Dragasevic N" first="Natasa T." last="Dragasevic">Natasa T. Dragasevic</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology CCS, Medical School, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
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<country wicri:auto="SCG">Serbie</country>
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</author>
<author><name sortKey="Culjkovic, Biljana" sort="Culjkovic, Biljana" uniqKey="Culjkovic B" first="Biljana" last="Culjkovic">Biljana Culjkovic</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PCR Center, Faculty of Biology, University of Belgrade</s1>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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</author>
<author><name sortKey="Ristic, Aleksandar" sort="Ristic, Aleksandar" uniqKey="Ristic A" first="Aleksandar" last="Ristic">Aleksandar Ristic</name>
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<author><name sortKey="Keckarevic, Milica" sort="Keckarevic, Milica" uniqKey="Keckarevic M" first="Milica" last="Keckarevic">Milica Keckarevic</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PCR Center, Faculty of Biology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
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<country wicri:auto="SCG">Serbie</country>
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<author><name sortKey="Topisirovic, Ivan" sort="Topisirovic, Ivan" uniqKey="Topisirovic I" first="Ivan" last="Topisirovic">Ivan Topisirovic</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PCR Center, Faculty of Biology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
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<country wicri:auto="SCG">Serbie</country>
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<author><name sortKey="Vukosavic, Slobodanka" sort="Vukosavic, Slobodanka" uniqKey="Vukosavic S" first="Slobodanka" last="Vukosavic">Slobodanka Vukosavic</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PCR Center, Faculty of Biology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
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</inist:fA14>
<country wicri:auto="SCG">Serbie</country>
</affiliation>
</author>
<author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology CCS, Medical School, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country wicri:auto="SCG">Serbie</country>
</affiliation>
</author>
<author><name sortKey="Kock, Norman" sort="Kock, Norman" uniqKey="Kock N" first="Norman" last="Kock">Norman Kock</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Departments of Neurology, University of Liibeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology CCS, Medical School, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country wicri:auto="SCG">Serbie</country>
</affiliation>
</author>
<author><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>PCR Center, Faculty of Biology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country wicri:auto="SCG">Serbie</country>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S." last="Kostic">Vladimir S. Kostic</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology CCS, Medical School, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country wicri:auto="SCG">Serbie</country>
</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>
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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>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cerebellar ataxia</term>
<term>Human</term>
<term>Nervous system diseases</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Homme</term>
<term>Ataxie cérébelleuse</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
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<front><div type="abstract" xml:lang="en">The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1-3, 6-8, 12, 17; dentate-rubro-pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult-onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia-causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult-onset ataxia.</div>
</front>
</TEI>
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</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>21</s2>
</fA05>
<fA06><s2>2</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>DRAGASEVIC (Natasa T.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>CULJKOVIC (Biljana)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>KLEIN (Christine)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>RISTIC (Aleksandar)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>KECKAREVIC (Milica)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>TOPISIROVIC (Ivan)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>VUKOSAVIC (Slobodanka)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>SVETEL (Marina)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>KOCK (Norman)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>STEFANOVA (Elka)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>ROMAC (Stanka)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>KOSTIC (Vladimir S.)</s1>
</fA11>
<fA14 i1="01"><s1>Institute of Neurology CCS, Medical School, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>PCR Center, Faculty of Biology, University of Belgrade</s1>
<s2>Belgrade</s2>
<s3>SCG</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Departments of Neurology, University of Liibeck</s1>
<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>187-191</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000153398400080</s5>
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<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>31 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0171943</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
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<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
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<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1-3, 6-8, 12, 17; dentate-rubro-pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult-onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia-causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult-onset ataxia.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17F</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B16B</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>Ataxie spinocérébelleuse</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Spinocerebellar ataxia</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Homme</s0>
<s5>10</s5>
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<fC03 i1="03" i2="X" l="ENG"><s0>Human</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Hombre</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Ataxie cérébelleuse</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Cerebellar ataxia</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Ataxia cerebelosa</s0>
<s2>NM</s2>
<s5>11</s5>
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<fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
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<fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
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<fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
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<s5>38</s5>
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<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
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<s5>38</s5>
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<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
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<s5>39</s5>
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<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
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<fN44 i1="01"><s1>OTO</s1>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients

Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients

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