Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
Identifieur interne : 001F93 ( Istex/Curation ); précédent : 001F92; suivant : 001F94Frequency 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. KostiSource :
- Movement Disorders [ 0885-3185 ] ; 2006-02.
English descriptors
- KwdEn :
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:
DOI: 10.1002/mds.20687
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001F93
Links to Exploration step
ISTEX:4618203E5999BAC74B08A927EF85A7C9CC2444C7Curation
No country items
Nataša T. Dragaševi<affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title><author><name sortKey="Dragasevi, Natasa T" sort="Dragasevi, Natasa T" uniqKey="Dragasevi N" first="Nataša T." last="Dragaševi">Nataša T. Dragaševi</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey=" Uljkovi, Biljana" sort=" Uljkovi, Biljana" uniqKey=" Uljkovi B" first="Biljana" last=" Uljkovi">Biljana Uljkovi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Departments of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Risti, Aleksandar" sort="Risti, Aleksandar" uniqKey="Risti A" first="Aleksandar" last="Risti">Aleksandar Risti</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Keckarevi, Milica" sort="Keckarevi, Milica" uniqKey="Keckarevi M" first="Milica" last="Keckarevi">Milica Keckarevi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Topisirovi, Ivan" sort="Topisirovi, Ivan" uniqKey="Topisirovi I" first="Ivan" last="Topisirovi">Ivan Topisirovi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Vukosavi, Slobodanka" sort="Vukosavi, Slobodanka" uniqKey="Vukosavi S" first="Slobodanka" last="Vukosavi">Slobodanka Vukosavi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Kock, Norman" sort="Kock, Norman" uniqKey="Kock N" first="Norman" last="Kock">Norman Kock</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Departments of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4618203E5999BAC74B08A927EF85A7C9CC2444C7</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.20687</idno><idno type="url">https://api.istex.fr/document/4618203E5999BAC74B08A927EF85A7C9CC2444C7/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001F93</idno><idno type="wicri:Area/Istex/Curation">001F93</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title><author><name sortKey="Dragasevi, Natasa T" sort="Dragasevi, Natasa T" uniqKey="Dragasevi N" first="Nataša T." last="Dragaševi">Nataša T. Dragaševi</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey=" Uljkovi, Biljana" sort=" Uljkovi, Biljana" uniqKey=" Uljkovi B" first="Biljana" last=" Uljkovi">Biljana Uljkovi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Departments of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Risti, Aleksandar" sort="Risti, Aleksandar" uniqKey="Risti A" first="Aleksandar" last="Risti">Aleksandar Risti</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Keckarevi, Milica" sort="Keckarevi, Milica" uniqKey="Keckarevi M" first="Milica" last="Keckarevi">Milica Keckarevi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Topisirovi, Ivan" sort="Topisirovi, Ivan" uniqKey="Topisirovi I" first="Ivan" last="Topisirovi">Ivan Topisirovi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Vukosavi, Slobodanka" sort="Vukosavi, Slobodanka" uniqKey="Vukosavi S" first="Slobodanka" last="Vukosavi">Slobodanka Vukosavi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Kock, Norman" sort="Kock, Norman" uniqKey="Kock N" first="Norman" last="Kock">Norman Kock</name><affiliation wicri:level="1"><mods:affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Departments of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-02">2006-02</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="187">187</biblScope><biblScope unit="page" to="191">191</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4618203E5999BAC74B08A927EF85A7C9CC2444C7</idno><idno type="DOI">10.1002/mds.20687</idno><idno type="ArticleID">MDS20687</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>SCA1</term><term>SCA2</term><term>autosomal dominant cerebellar ataxia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001F93 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 001F93 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:4618203E5999BAC74B08A927EF85A7C9CC2444C7
|texte= Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
}}
| This area was generated with Dilib version V0.6.23. |  |