Clinical and genetic study of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate clinical features and genetic mutations of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were employed to analyze exon 10 of the SCA3 gene, in addition with all exons and flanking sequences of PKD1 and PKD2 genes. The clinical features were also carefully analyzed.</p><p><b>RESULTS</b>The numbers of CAG repeat in the proband's SCA3 gene were 28/76, with the number of repeats in the mutant allele being in the full range. The sequence of exon 23 of the PKD1 gene was also found to be abnormal. Clinical symptoms of the proband were very serious, which were characterized by obvious ataxia, pyramidal signs, Meige syndrome, depression and high blood pressure.</p><p><b>CONCLUSION</b>Hereditary spinocerebellar ataxia 3 and autonomic dominant polycystic kidney disease may co-occur, and genetic testing is the primary means of diagnosis.</p>