The Research Of Clinical Features, MRI And Trinucleotide Dynomic Mutation Of Patients With Spinocerebellar Ataxia In Xinjiang

Background:Spinocercbellar ataxias (SCAs) are a complex group of progressive neurodegenerative disease that mainly affects the nervous system, especially the cerebellum, brainstem and spinocerebellar tracts. Patients with adult-onset ataxia have dominant or recessive inheritance patterns or have no family history of ataxia. Ataxia and dysarthria are typical symptoms in genetically defined dominant ataxia, but great variability exists between the subtypes, regions and nations, regarding to abnormalities, e.g. oculomotor disturbances, pyramidal and extrapy-ramidal findings, and cognitive impairment. SCAs have been reported in China and other places, but SCAs have never been found in Xinjiang before. In the different regions of Xinjiang from 2003 to 2005, we found four families and two sporadic patients with ataxia. In clinic, we diagnosed the patients with ADCA I . For further investication in the four pedigrees and sporadic individuals,the neurological examination, MRI and DNA samples were taken and analysed by neurologists and radiologists.Objective:1. To detect the characteristics of clinical features and MRI in Xinjiang pedigrees and sporadic patients with SCAs.2. To make the molecular genetic diagnoses for patients and presymp-tomatic relatives of families in Xinjiang SCAs.