Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations

Christina Votsi, Eleni Zamba-Papanicolaou, Anthi Georghiou, Theodoros Kyriakides, Savvas Papacostas, Kleopas A. Kleopa, Marios Pantzaris, Kyproula Christodoulou

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Autosomal dominant cerebellar ataxias (ADCAs) encompass a heterogeneous group of rare diseases that affect the cerebellum and its connections. The most common forms have been associated with dynamic mutations while some rarer forms with conventional mutations. Studies in different populations revealed differences in their relative frequencies both within and between the studied populations, showing that the frequencies are depended on ethnic and geographical factors. Previous investigation of triplet repeat expansion SCAs (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPLA) in the Cypriot population, revealed no pathogenic expansion in the Cypriot SCA patients. We hereby present our recent investigation of the SCA10 pentanucleotide repeat expansion. Forty-two ascertained Cypriot sporadic ataxia patients, the index case from 1 ADCA and 14 ARCA families and a cohort of normal population individuals were included in the study. All our patients have normal range ATXN10 gene ATTCT repeat numbers (10-19). In the normal population group, repeat lengths ranged from 11 to 20 with the 14 repeats allele being the most frequent. Therefore, all currently established dynamic repeat SCA mutations are absent from the Cypriot population, indicating distinct genetic causes.

Original languageEnglish
Pages (from-to)154-157
Number of pages4
JournalJournal of the Neurological Sciences
Volume323
Issue number1-2
DOIs
Publication statusPublished - 15 Dec 2012

Keywords

  • ADCA
  • ARCA
  • Pentanucleotide repeat expansion
  • SCA
  • SCA10
  • Sporadic ataxia
  • Triplet repeat expansion SCAs

Fingerprint Dive into the research topics of 'Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations'. Together they form a unique fingerprint.

  • Cite this

    Votsi, C., Zamba-Papanicolaou, E., Georghiou, A., Kyriakides, T., Papacostas, S., Kleopa, K. A., Pantzaris, M., & Christodoulou, K. (2012). Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations. Journal of the Neurological Sciences, 323(1-2), 154-157. https://doi.org/10.1016/j.jns.2012.09.006