SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.

Hum Mutat. 2009 Jul;30(7):1037-42
Faruq M, Scaria V, Singh I, Tyagi S, Srivastava AK, Mukerji M.


Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology-Council of Scientific and Industrial Research (IGIB-CSIR), Delhi, India.

Keyword: Repeat expansion, autosomal dominant cerebellar ataxias (ADCAs), spinocerebellar ataxias (SCAs),   clinical classification,  prevalence, phenotypic expression,  ethnic groups, SCA-locus-specific variation database (LSVD),  SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich's ataxia [FRDA], dentatorubral-pallidoluysian atrophy [DRPLA]),  Leiden Open (source) Variation Database (LOVD) software,  clinical features, HGVS Nomenclature guidelines.

High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

Acta Myol. 2009 Jul;28(1):24-6.

Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou K.
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Keyword: Friedreich's ataxia, Paphos, Cyprus,  GAA triplet repeat, frataxin gene,  carrier frequency,  organized prevention programme.