Analysis Of Clinical Manifestation, Imaging And Gene Mutation In Two Korean Nationality Pedigrees From Liaoning Province Suffering From Spinocerebellar Ataxia

Objective：1.To analyze the clinical manifestation,imaging,gene mutation and therelationship among the three aspects mentioned above in two Korean nationalitypedigrees from Liaoning Province suffering from spinocerebellar ataxia.2.To make a correct diagnosis to the cases with gene of SCA and beforepresymptomatic by conducting the gene screening to the members of the pedigree.Methods:Both the two probands were inpatients from the first hospital affiliated to theDalian Medical university during2011, they were diagnosed as SCA based on theclinical manifestation, imaging and family history. The clinical diagnosis compliedwith the Harding diagnosis standard. The family tree was drew by investigation, thedetailed checking on the nervous system was performed to some members from thefamily. Also we did MRI in the head, the evaluation of ICARS vector table and thegene detection by extrating5ml peripheral blood to the subjects.Results:We found a SCA7family and a SCA8family. The main manifestationsof patients with SCA7were cerebellar ataxia and hypopsia. The ages of onset of theproband and his father were7-year old and28-year old; the courses of disease were5years and11years respectively; the ICARS scores were63and65respectively. HeadMRI showed atrophy in cerebellum and brainstem. Genetic test detected the repeatabnormal expansions of CAG in SCA7gene coding region, which were54and34respectively. The main manifestations of patients with SCA8were cerebellar ataxiaand dysarthria. The course of diseases was more than40years and the ICARS scoreswere35in the proband with onset at childhood. The head MRI only showedcerebellar atrophy. Genetic test detected repeat abnormal expansions of CTG in SCA8gene noncoding region in proband and his brother, which were107and101respectively. The proband’s brother was disease-free currently and may bepre-symptomatic patients.Conclusion:1.There are types such as SCA7and SCA8in sufferers of Korean nationality inLiaoning Province, SCA7belongs to gene mutation in the coding region; the patient’scondition develops quickly. SCA8belongs to gene mutation in the non-coding region;the patient’s condition develops slowly.2.34times may be the minimum times in finding SCA7gene CAG abnormalrepeatability up to now.3.The genetic testing is the golden criteria to decide and to make a definitediagnosis on SCA, which is one crucial approach to examine presymptomaticsufferers.