Gene mutation and clinical feature of 10 patients with spinocerebellar ataxia type 2 and type 3
- VernacularTitle:脊髓小脑共济失调2型、3型患者10例基因突变与临床表型分析
- Author:
Xiao-Ning ZHANG
;
Jing LEI
;
Jian-Hua MA
;
- Publication Type:Journal Article
- Keywords:
Spinocerebellar ataxia;
Trinucleotide repeats;
Mutation;
Pedigree
- From:
Chinese Journal of Neurology
2000;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate clinical phenotype and the characteristics of gene mutation of patients with spinocercbellar ataxia type 2 and type 3.Methods The trinucleotide repeat mutations were detected by polymerase chain reaction (PCR),fluorescence-PCR and capillary electrophoresis in 9 patients and 43 members from 4 spinocerebellar ataxia families,1 sporadic patients,and 60 normal controls without family history.Results Six patients from 3 families and one sporadic patient had SCA3/MJD (CAG) n expansion mutation(n=68-75) ;Three patients from 1 family had SCA2 allele expansion for 37-41 times. Some of clinical menifestations were same among patients with type 2 or 3,while they showed significant difference in age of onset ,disease devetopment and nervous system injury.Conclusion The difference of clinical feature helps to distinguish SCA3/MJD and SCA2,however genotype analysis is the only method of definite diagnosis.
