MovDisordV3, Main, Exploration, bibRecord, 003430

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

Identifieur interne : 003430 ( Main/Exploration ); précédent : 003429; suivant : 003431

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

Auteurs : Nataša T. Dragaševi ; Biljana Uljkovi ; Christine Klein [Allemagne] ; Aleksandar Risti ; Milica Keckarevi ; Ivan Topisirovi ; Slobodanka Vukosavi ; Marina Svetel ; Norman Kock [Allemagne] ; Elka Stefanova ; Stanka Romac ; Vladimir S. Kosti

Source :

Movement Disorders [ 0885-3185 ] ; 2006-02.

RBID : ISTEX:4618203E5999BAC74B08A927EF85A7C9CC2444C7

English descriptors

KwdEn :
- Adult, Aged, Chromosome Aberrations, Cross-Sectional Studies, Ethnic Groups (genetics), Female, Founder Effect, Genes, Dominant, Genes, Recessive, Humans, Male, Middle Aged, Neurologic Examination, SCA1, SCA2, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (ethnology), Spinocerebellar Ataxias (genetics), Yugoslavia (epidemiology), autosomal dominant cerebellar ataxia.
MESH :
- geographic , epidemiology : Yugoslavia.
- diagnosis : Spinocerebellar Ataxias.
- epidemiology : Spinocerebellar Ataxias.
- ethnology : Spinocerebellar Ataxias.
- genetics : Ethnic Groups, Spinocerebellar Ataxias.
- Adult, Aged, Chromosome Aberrations, Cross-Sectional Studies, Female, Founder Effect, Genes, Dominant, Genes, Recessive, Humans, Male, Middle Aged, Neurologic Examination.

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. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/4618203E5999BAC74B08A927EF85A7C9CC2444C7/fulltext/pdf

DOI: 10.1002/mds.20687

Affiliations:

Allemagne

Le document en format XML

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<author><name sortKey=" Uljkovi, Biljana" sort=" Uljkovi, Biljana" uniqKey=" Uljkovi B" first="Biljana" last=" Uljkovi">Biljana  Uljkovi</name>
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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><name sortKey="Risti, Aleksandar" sort="Risti, Aleksandar" uniqKey="Risti A" first="Aleksandar" last="Risti">Aleksandar Risti</name>
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<author><name sortKey="Keckarevi, Milica" sort="Keckarevi, Milica" uniqKey="Keckarevi M" first="Milica" last="Keckarevi">Milica Keckarevi</name>
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<author><name sortKey="Topisirovi, Ivan" sort="Topisirovi, Ivan" uniqKey="Topisirovi I" first="Ivan" last="Topisirovi">Ivan Topisirovi</name>
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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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<author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name>
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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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<author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name>
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<series><title level="j">Movement Disorders</title>
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<term>Cross-Sectional Studies</term>
<term>Ethnic Groups (genetics)</term>
<term>Female</term>
<term>Founder Effect</term>
<term>Genes, Dominant</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
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<term>SCA2</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (epidemiology)</term>
<term>Spinocerebellar Ataxias (ethnology)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
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<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ethnic Groups</term>
<term>Spinocerebellar Ataxias</term>
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<term>Aged</term>
<term>Chromosome Aberrations</term>
<term>Cross-Sectional Studies</term>
<term>Female</term>
<term>Founder Effect</term>
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<term>Genes, Recessive</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. © 2005 Movement Disorder Society</div>
</front>
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<affiliations><list><country><li>Allemagne</li>
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<tree><noCountry><name sortKey=" Uljkovi, Biljana" sort=" Uljkovi, Biljana" uniqKey=" Uljkovi B" first="Biljana" last=" Uljkovi">Biljana  Uljkovi</name>
<name sortKey="Dragasevi, Natasa T" sort="Dragasevi, Natasa T" uniqKey="Dragasevi N" first="Nataša T." last="Dragaševi">Nataša T. Dragaševi</name>
<name sortKey="Keckarevi, Milica" sort="Keckarevi, Milica" uniqKey="Keckarevi M" first="Milica" last="Keckarevi">Milica Keckarevi</name>
<name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name>
<name sortKey="Risti, Aleksandar" sort="Risti, Aleksandar" uniqKey="Risti A" first="Aleksandar" last="Risti">Aleksandar Risti</name>
<name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name>
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<name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
<name sortKey="Topisirovi, Ivan" sort="Topisirovi, Ivan" uniqKey="Topisirovi I" first="Ivan" last="Topisirovi">Ivan Topisirovi</name>
<name sortKey="Vukosavi, Slobodanka" sort="Vukosavi, Slobodanka" uniqKey="Vukosavi S" first="Slobodanka" last="Vukosavi">Slobodanka Vukosavi</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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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

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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