Movement Disorders (revue)

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

Identifieur interne : 001C62 ( PascalFrancis/Corpus ); précédent : 001C61; suivant : 001C63

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

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

Source :

RBID : Pascal:06-0171943

Descripteurs français

English descriptors

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 21
A06       @2 2
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
A61       @0 A
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

Format Inist (serveur)

NO : PASCAL 06-0171943 INIST
ET : Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients
AU : DRAGASEVIC (Natasa T.); CULJKOVIC (Biljana); KLEIN (Christine); RISTIC (Aleksandar); KECKAREVIC (Milica); TOPISIROVIC (Ivan); VUKOSAVIC (Slobodanka); SVETEL (Marina); KOCK (Norman); STEFANOVA (Elka); ROMAC (Stanka); KOSTIC (Vladimir S.)
AF : Institute of Neurology CCS, Medical School, University of Belgrade/Belgrade/Serbie-et-Monténégro (1 aut., 4 aut., 8 aut., 10 aut., 12 aut.); PCR Center, Faculty of Biology, University of Belgrade/Belgrade/Serbie-et-Monténégro (2 aut., 5 aut., 6 aut., 7 aut., 11 aut.); Departments of Neurology, University of Liibeck/Lubeck/Allemagne (3 aut., 9 aut.)
DT : Publication en série; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 2; Pp. 187-191; Bibl. 31 ref.
LA : Anglais
EA : 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.
CC : 002B17; 002B17F; 002B16B
FD : Système nerveux pathologie; Ataxie spinocérébelleuse; Homme; Ataxie cérébelleuse
FG : Maladie dégénérative; Maladie héréditaire; Système nerveux central pathologie
ED : Nervous system diseases; Spinocerebellar ataxia; Human; Cerebellar ataxia
EG : Degenerative disease; Genetic disease; Central nervous system disease
SD : Sistema nervioso patología; Ataxia spinocerebelosa; Hombre; Ataxia cerebelosa
LO : INIST-20953.354000153398400080
ID : 06-0171943

Links to Exploration step

Pascal:06-0171943

Le document en format XML

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<title level="j" type="main">Movement disorders</title>
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<title level="j" type="main">Movement disorders</title>
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<term>Cerebellar ataxia</term>
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<term>Nervous system diseases</term>
<term>Spinocerebellar ataxia</term>
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<term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Homme</term>
<term>Ataxie cérébelleuse</term>
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<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>
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<ET>Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in serbian patients</ET>
<AU>DRAGASEVIC (Natasa T.); CULJKOVIC (Biljana); KLEIN (Christine); RISTIC (Aleksandar); KECKAREVIC (Milica); TOPISIROVIC (Ivan); VUKOSAVIC (Slobodanka); SVETEL (Marina); KOCK (Norman); STEFANOVA (Elka); ROMAC (Stanka); KOSTIC (Vladimir S.)</AU>
<AF>Institute of Neurology CCS, Medical School, University of Belgrade/Belgrade/Serbie-et-Monténégro (1 aut., 4 aut., 8 aut., 10 aut., 12 aut.); PCR Center, Faculty of Biology, University of Belgrade/Belgrade/Serbie-et-Monténégro (2 aut., 5 aut., 6 aut., 7 aut., 11 aut.); Departments of Neurology, University of Liibeck/Lubeck/Allemagne (3 aut., 9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 2; Pp. 187-191; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
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