title: [Clinical and genetic analysis of a pedigree of Kennedy disease].
abstract: To review the clinical and genetic features of a pedigree of Kennedy disease in China.
  
  
  
  The clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.
  
  
  
  In the pedigree, 4 patients were identified as Kennedy disease. Clinical manifested with adult-onset, progressive proximal limb muscle weakness and atrophy, gynecomastia, oligospermia were also presented. The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband. The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly.
  
  
  
  Androgen receptors gene testing is the most reliable diagnosing method, the patients suspected as Kennedy disease should have a gene testing of androgen receptors.
authors: Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors: Zhi-yuan
authors: ZY
authors: Ou-Yang
authors: Shui-jiang
authors: SJ
authors: Song
authors: Jian-ren
authors: JR
authors: Liu
authors: Bao-rong
authors: BR
authors: Zhang
authors: Ding-wen
authors: DW
authors: Wu
mesh_terms: D001483:Base Sequence; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D011944:Receptors, Androgen