Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/2838
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dc.contributor.authorTopisirovic, I.en_US
dc.contributor.authorDragaševic, N.en_US
dc.contributor.authorSavic, D.en_US
dc.contributor.authorRistic, A.en_US
dc.contributor.authorKeckarevic, M.en_US
dc.contributor.authorKeckarevic, D.en_US
dc.contributor.authorCuljkovic, B.en_US
dc.contributor.authorPetrovic, I.en_US
dc.contributor.authorRomac, S.en_US
dc.contributor.authorKostic, V. S.en_US
dc.date.accessioned2019-10-26T17:38:41Z-
dc.date.available2019-10-26T17:38:41Z-
dc.date.issued2002-10-
dc.identifier.issn0009-9163-
dc.identifier.urihttps://biore.bio.bg.ac.rs/handle/123456789/2838-
dc.description.abstractSpinocerebellar ataxia type 8 (SCA8) is a slowly progressive ataxia causally associated with untranslated CTG repeat expansion on chromosome 13q21. However, the role of the CTG repeat in SCA8 pathology is not yet well understood. Therefore, we studied the length of the SCA8 CTA/CTG expansions (combined repeats, CRs) in 115 patients with ataxia, 64 unrelated individuals with non-triplet neuromuscular diseases, 70 unrelated patients with schizophrenia, and 125 healthy controls. Only one patient with apparently sporadic ataxia was identified with an expansion of 100 CRs. He had inherited the expansion from his asymptomatic father (140 CRs) and transmitted the mutation to his son (92CRs). Paternal transmission in this family produced contractions of 40 and 8 CRs, respectively. None of the subjects from other studied groups had an expansion at the SCA8 locus. In the control group the number of CRs at the SCA8 locus ranged from 14 to 34. Our findings support the notion that allelic variants of the expansion mutation at the SCA8 locus can predispose to ataxia.en_US
dc.language.isoenen_US
dc.relation.ispartofClinical Geneticsen_US
dc.subjectAtaxiaen_US
dc.subjectSCA8en_US
dc.subjectTrinucleotide repeat expansionen_US
dc.titleGenetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslaviaen_US
dc.typeArticleen_US
dc.identifier.doi10.1034/j.1399-0004.2002.620412.x-
dc.identifier.pmid12372061-
dc.identifier.scopus2-s2.0-0036821819-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/0036821819-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.openairetypeArticle-
item.fulltextWith Fulltext-
item.grantfulltextrestricted-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.orcid0000-0002-2079-4077-
crisitem.author.orcid0000-0001-9866-9439-
crisitem.author.orcid0000-0003-2446-7177-
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