Study results from Cardiff University, Medical Department broaden understanding of ataxia
2009 JUL 10 - (NewsRx.com) -- According to a study from Wales, "An increasing number of dominant and recessive disorders have been associated with late onset chronic progressive ataxia (LOCA) complicating the formulation of a rational diagnostic strategy. Furthermore, there is marked geographic and ethnic variation in the relative importance of these individual disorders and the cause of such observed variation remains unexplained." "We have systematically investigated a populationbased cohort of patients with chronic progressive LOCA for SCA 1,2,3,6,7,8,10,12,17, FXTAS and FRDA. In addition we have examined repeat length polymorphism in chromosomes from a genetically homogeneous and representative control population to investigate the association of high-normal repeats and disease prevalence. A total of 178 patients including 55 familial cases segregating in 38 kindreds and 123 sporadic were investigated. Pathological expansions were identified in 11/38 (28.9 %) of families and in 5/123 (4.1 %) of sporadic patients. The most frequent diagnoses were SCA6 (6 families and 1 sporadic patient), DRPLA (4 families) and SCA8 (1 family). In addition, one elderly female patient was identified with ''possible FXTAS''. Six (2 %) control patients were noted to have expanded SCA8 alleles. SCA6 and DRPLA were the most frequent genetic diagnoses identified. Patterns of highnormal allele frequency in this UK population were distinct compared to other ethnic groups but this was poorly predictive of the distribution of disease in this region," wrote M. Wardle and colleagues, Cardiff University, Medical Department. The researchers concluded: "The relative contribution of new mutation formation and founder effects to the prevalence of familial ataxia is uncertain, and further exploration of these factors will require detailed analysis of disease allele haplotypes and meiotic instability of intermediate length alleles." Wardle and colleagues published the results of their research in the Journal of Neurology (The genetic aetiology of late-onset chronic progressive cerebellar ataxia. Journal of Neurology, 2009;256(3):343-348). For additional information, contact M. Wardle, Cardiff University, School Medical, Dept. of Neurology Ophthalmology & Audiol Medical, Heath Pk, Cardiff CF14 4XN, S Glam, Wales. The publisher of the Journal of Neurology can be contacted at: Dr. Dietrich Steinkopff Verlag, Tiergartenstrasse 17, 69121 Heidelberg, Germany. Keywords: Wales, Cerebellar Ataxia, Diagnostics, Genetics, Machado-Joseph Disease, Neurology, Urology, Cardiff University, Medical Department. This article was prepared by Genomics & Genetics Weekly editors from staff and other reports. Copyright 2009, Genomics & Genetics Weekly via NewsRx.com.
|
