MovDisordV3, Main, Exploration, bibRecord, 003657

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

Identifieur interne : 003657 ( Main/Exploration ); précédent : 003656; suivant : 003658

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.

Affiliations:

Allemagne, Serbie

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Le document en format XML

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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>
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<author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
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<s2>Belgrade</s2>
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<author><name sortKey="Kock, Norman" sort="Kock, Norman" uniqKey="Kock N" first="Norman" last="Kock">Norman Kock</name>
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<s2>Lubeck</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
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<wicri:noRegion>Lubeck</wicri:noRegion>
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<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>
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<author><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name>
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<s2>Belgrade</s2>
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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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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2006">2006</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<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>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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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>
<affiliations><list><country><li>Allemagne</li>
<li>Serbie</li>
</country>
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<tree><country name="Serbie"><noRegion><name sortKey="Dragasevic, Natasa T" sort="Dragasevic, Natasa T" uniqKey="Dragasevic N" first="Natasa T." last="Dragasevic">Natasa T. Dragasevic</name>
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<name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
<name sortKey="Topisirovic, Ivan" sort="Topisirovic, Ivan" uniqKey="Topisirovic I" first="Ivan" last="Topisirovic">Ivan Topisirovic</name>
<name sortKey="Vukosavic, Slobodanka" sort="Vukosavic, Slobodanka" uniqKey="Vukosavic S" first="Slobodanka" last="Vukosavic">Slobodanka Vukosavic</name>
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<country name="Allemagne"><noRegion><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<name sortKey="Kock, Norman" sort="Kock, Norman" uniqKey="Kock N" first="Norman" last="Kock">Norman Kock</name>
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   |texte=   Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients
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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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