title: Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.
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.
authors.affiliation: Institute of Neurology CCS, Medical School, University of Belgrade, Belgrade, Serbia and Montenegro.
authors.forename: Natasa T
authors.initials: NT
authors.lastname: Dragasević
authors.forename: Biljana
authors.initials: B
authors.lastname: Culjković
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Ristić
authors.forename: Milica
authors.initials: M
authors.lastname: Keckarević
authors.forename: Ivan
authors.initials: I
authors.lastname: Topisirović
authors.forename: Slobodanka
authors.initials: S
authors.lastname: Vukosavić
authors.forename: Marina
authors.initials: M
authors.lastname: Svetel
authors.forename: Norman
authors.initials: N
authors.lastname: Kock
authors.forename: Elka
authors.initials: E
authors.lastname: Stefanova
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D003430:Cross-Sectional Studies; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D015022:Yugoslavia / Q000453:epidemiology