Genetic Analysis And Clinical Study Of 2 Families With Machado-Joseph Diseas

Objective:To study the genetic characteristics and clinical manifestations of 2 families in Guangxi with hereditary spinocerebellar ataxia (SCA).Methods:1. The 2 families with hereditary spinocerebellar ataxia were investigated with medical history and manifestations with the International Cooperative Ataxia Rating Scale (ICARS), Ataxia Rating Scale (SARA), Mini Mental State Scale (MMSE). DNA of peripheral venous blood was amplified with polymerase chain reaction (PCR) and separated on agarose gel electrophoresis. SCA typing was confirmed by analyzing fragment length and CAG repeats.Results:The main clinical manifestations of 2 families include walking instability, slow movement, dysarthria. MJD/SCA3 was detected in 9 patients by genetic testing for, trinucleotide sequence (CAG) n repeat number abnormality, one of which allele (CAG) n repeat number range for 15-40 times and another allele (CAG) n repeat number range of 70-80 times. Spearman rank correlation suggests that ICARS, SARA scores were positively correlated with the course of disease, and MMSE scores were negatively correlated with the duration of the disease. (CAG) n repeat numbers were negatively correlated with duration, onset age. However, none of these spearman rank correlations are with statistical significance.Conclusion:Both 2 families in this study of clinical in cerebellum, brainstem lesions such as cone beam and extrapyramidal system damage, autosomal dominant inheritance, genetic testing were MJD/SCA3, family 1 in 4 patients (CAG) n repeat number for 71, family 2,5 patients (CAG) n repeat number for 74-80; MJD/SCA3 patients with onset age and clinical symptoms, (CAG) n repeat number and age of onset and duration may have a certain relationship. Spearman rank related tips icars, Sara score and duration were positively correlated; MMSE scores and the duration of the disease was negative correlation trend (CAG) n repeat number and duration, onset age was negative correlation trend, but there were no statistical significance.