TY - JOUR
T1 - Investigation of SCA10 in the Cypriot population
T2 - Further exclusion of SCA dynamic repeat mutations
AU - Votsi, Christina
AU - Zamba-Papanicolaou, Eleni
AU - Georghiou, Anthi
AU - Kyriakides, Theodoros
AU - Papacostas, Savvas
AU - Kleopa, Kleopas A.
AU - Pantzaris, Marios
AU - Christodoulou, Kyproula
PY - 2012/12/15
Y1 - 2012/12/15
N2 - 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.
AB - 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.
KW - ADCA
KW - ARCA
KW - Pentanucleotide repeat expansion
KW - SCA
KW - SCA10
KW - Sporadic ataxia
KW - Triplet repeat expansion SCAs
UR - http://www.scopus.com/inward/record.url?scp=84867889347&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2012.09.006
DO - 10.1016/j.jns.2012.09.006
M3 - Article
C2 - 23026538
AN - SCOPUS:84867889347
SN - 0022-510X
VL - 323
SP - 154
EP - 157
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1-2
ER -