Clinical and molecular biological features of 2 Chinese patients with Kennedy's disease diagnosed by gene analysis / 中华神经科杂志

ABSTRACT

Objective To diagnose Kennedy's disease (KD) via molecular analysis of the androgen receptor gene with suspected KD.Methods Two patients with suspected KD were reported.We analyzed their clinical features and investigated the number of CAG repeats in the androgen receptor genes. Results Both of the patients were characterized by slow progression of predominant proximal and bulbar muscle weakness.Patient 2 had oligospermatism.Serum creatine kinase and triglyceride levels were found markedly increased.The exact number of CAG was 52 in patient 1 and 48 in patient 2,respectively.These 2 patients were finally diagnosed as Kennedy's disease through the analysis of androgen receptor gene by PCR and direct sequencing.Conclusions The method of molecular analysis for KD had been copied in China.The clinical and molecular biological features of 2 Chinese patients with KD had been discussed.KD is a neurodegenerative disorder by proximal limb muscular atrophy and weakness with lower motor neuron signs,bulbar involvement.Dyscrinism and metabolic abnormalities may also be observed.Gene analysis is the unique and reliable methods to diagnose KD.