Report of 2 cases of spinocerebellar ataxia type 2
Objective To investigate the diagnosis procedure,the clinical characteristics,therapeutic progression and genetic counseling of patients with Spinocerebellar ataxia type 2(SCA2).Methods The clinical characteristics and pedigrees of two SCA2 patients confirmed in Xiangyang Central Hospital were collected.Whole exome sequencing(WES)and capillary electrophoresis were used to perform genetic testing on the two probands and family members.Results The proband of family I was a 20-year-old female.Genetic tests of the proband and her daughter showed that the CAG repeats of the ATXN2 allele were 22/48 and 22/51 respectively.A total of 5 people in 5 generations of were affected in the family Ⅰ.The proband of familyⅡ was a 27-year-old female,who sought medical advice due to slurred speech and an unsteady gait for four years.Genetic tests showed that the CAG repeats of ATXN2 allele were 22/44 times respectively,a total of 3 people in 5 generations in the family Ⅱ were affected.Conclusion Both probands from family Ⅰ and family Ⅱ were diagnosed with SCA2.Genetic testings are the reliable and effective means for differential diagnosis of the SCA2 and other subtypes.Confirmed patients and mutation carriers who have fertility requirements should seek timely genetic counseling.
spinocerebellar ataxia type 2capillary electrophoresisgenetic testingATXN2 genegenetic counseling
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