关键词:  脊髓小脑共济失调；家系；临床分析

Abstract:

Abstract:Objective To investigate the clinical features of spinocerebellar ataxiatype 3(SCA3) through the analysis of clinical and genetic characteristics of the patrents with spinocerebellar ataxia type 3(SCA3) in a large Chinese family. Methods The SCA3 patients from one family with 46 family members were selected,the clinical data from 5 patients confirmed by genetic diagnosis were summarized and analyzed retrospectively;meanwhile the  specimens of blood samples of 10 people in the family were selected for genetic diagnosis and  polymerase chain reaction (PCR) specific for the suspected causative gene of SCA3 was performed.The clinical features of this type of disease,and effective diagnosis and typing methods were summarized. Results The  age range of onset was from 17 to 53 years (average 35 years). The duration of disease was 6-17 years,average 11.7 years. The clinical manifestations were complex,and the most common manifestations were uvula and ataxia (4/5),followed by superficial sensory impairment and facial palsy (3/5). In the patient samples numbered 1,2,3,4,and 8,the PCR product of one allele was about 200 bp,whereas that of another allele was about 400 bp. The patient numbered 1, a 7-year-old girl, was found no other signs and symptoms outside uvula offset. Conclusion The  species and subtypes of such genetic diseases are different,the clinical manifestations are complex,the symptoms overlap,and the genetic diagnosis is an effective method.

Key words: spinocerebellar ataxia, pedigree, clinical analysis