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

Nataša T. Dragašević, Biljana Čuljković, Christine Klein, Aleksandar Ristić, Milica Keckarević, Ivan Topisirović, Slobodanka Vukosavić, Marina Svetel, Norman Kock, Elka Stefanova, Stanka Romac, Vladimir S. Kostić*

*Corresponding author for this work
19 Citations (Scopus)


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.

Original languageEnglish
JournalMovement Disorders
Issue number2
Pages (from-to)187-191
Number of pages5
Publication statusPublished - 01.02.2006


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