To Analyze The Clinical Phenotype And The Image Of 6 Spinocerebellar Ataxia Type 2 And 3 Patients

Objective:6 spinocerebellar ataxia type 2, type 3 patients with Clinical manifestation and cerebellar brainstem atrophy were analyzed and studied in this thesis.Methods:Genetic diagnosis and neurologic examination were performed on six patients considered to be spinocerebellar ataxia. The preliminary evaluation of the ataxia severity and cognitive function was conducted referring to ICARS and MMSE. Cerebellums, brainstems, and the fourth ventricle diameters of the 6 patients with SCA and 19 healthy subjects were measured by means of head MRI on PACSE system. Results:It was found that CAG repetition times of abnormal allele of 4 patients with SCA2 lied in the range of 37 to 47 and those indices of two patients with SCA3 were respectively 67 and 70. Cerebellums, brainstems of patients with SCA2 and SCA3 were less than those of healthy subjects (P<0.05). The fourth ventricle transverse diameter of patients with SCA2 and SCA3 were greater than those of healthy subjects (P<0.05). Bridge cerebral longitudinal diameter of patients with SCA2 group were less than that of SCA3 group(P<0.05). Positive correlation was found between the the fourth ventricle transverse diameter and the value of ICARS (r=0.91 P<0.05). Positive correlation was found between the cerebellar groove width and the value of ICARS (r=0.89, P=0.01).Conclusion:The brainstem and cerebellum atrophy of patients with SCA2 and SCA3 were obvious. The severity of Ataxia associated with the fourth ventricular transverse diameter and vallecula width.Diameter measurements obtained from brain MIR can provide SCA 2 and SCA 3 patients with a quantifiable index for clinical symptoms.