Clinical And Genetic Study Of Spinocerebellar Ataxia

ObjectiveTo recognize the clinical and molecular biological characteristics of spinocerebellar ataxias(SCAs)by study three SCA suspected families using molecular biotechnique.Methods1 the cliniacal data of three suspected SCAs families were collected. Three index cases and part of the members from three families accepted neurological examination after informed consent, and the peripheral vein blood was collected. After DNA extracted, it was amplified by PCR using the primers SCA1, 2, 3, 6, 7, 17 and DPRLA respectively and the PCR products were sequenced. The final diagnose depended on the genetic results.2 To evaluate the cognitive and emotional status of the patients from the family A,three patients and one member without symptoms and signs from the family accepted a series of examinations: general cognitive ability was assessed by Wechsler Abbreviated scale of Intelligence (WASI) and Mini-mental State examination (MMSE), executive ability by Wisconsin Card Sorting test(WCST) and depression status by Self-rating Depression scale (SDS).Results1 Family A was diagnosed as SCA3 subtype which characterized by slow disease progression, cerebrellar ataxia, middle-aged onset, mild ophthalmic amyostasia, memory disorders, dyscalculia and pyramidal signs. Family B and C which characterized by cerebellar ataxia and pyramidal signs was failed to be confirmed the genetic subtype.2 The results of the cognitive and emotional status of three patients from the family A showed that the total intelligence quotient(IQ), working memory IQ and verbal IQ were lower than those of the member from the family having neither clinical symptom nor genovariation. Except for the perseverative errors, all the scores of other items for WCST in these patients revealed the impaired concept formation and the decreased fluency while the frontal lobe function were not effected.⑶Three patients'scores of SDS were range from 52.50 to 63.75, which meaned they all had mild or medium depression.Conclusions :1 The clinical manifestation of SCAs has a feature of heterogeneity and overlap, genetic diagnosis can be used as a gold standard for classification.2 SCA3 can be accompanied with dementia, and dementia can be a dominant symptom in SCA3.