title: [Clinical manifestations and molecular genetics of spinal bulbar muscular atrophy: report of 5 cases].
abstract: OBJECTIVE
  To study the clinical and molecular genetic characteristics of spinal bulbar muscular atrophy (SBMA).
  
  
  METHODS
  The clinical data, including case history, physical examination, biochemical analyses of blood, EMG, and muscle biopsy, of 5 Chinese patients with SBMA, all males, aged 29 - 58, with the onset age of 36 (17 - 49), were collected the information of in 5 cases. Four patients underwent PCR to examine the number of copies of CAG repeat region in androgen receptor (AR) gene.
  
  
  RESULTS
  The clinical characteristics of the 5 patients included atrophy of lingualis, dysarthria, weakness and waste of the limbs, especially in the hands, and elevated creatine kinase (CK), fasting glucose, testosterone, and progesterone in the blood. EMG showed denervation motor potentials in all cases. The muscle biopsy in one case showed neurogenic atrophy. The number of (CAG) n repeat in AR gene was 50 - 62 in the, remarkably from that of 13 normal controls (19 - 20) without overlapping.
  
  
  CONCLUSIONS
  SBMA affects the middle age males, shows a slowly progressing muscular atrophy in spinal and bulbar muscles. The different number of (CAG) n repeat of AR gene between the SBMA patients and the normal controls may be an important identification to differentiate SBMA from other motor neuron diseases.
authors.affiliation: Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Xun-Hua
authors.initials: XH
authors.lastname: Li
authors.forename: Jia-Jun
authors.initials: JJ
authors.lastname: Zhuang
authors.forename: Qiu-You
authors.initials: QY
authors.lastname: Xie
authors.forename: Ai-Ping
authors.initials: AP
authors.lastname: Li
authors.forename: Xiu-Ling
authors.initials: XL
authors.lastname: Liang
authors.forename: Yan-Qing
authors.initials: YQ
authors.lastname: Feng
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Fang
authors.forename: Jin-Ru
authors.initials: JR
authors.lastname: Li
authors.forename: Yin-Xing
authors.initials: YX
authors.lastname: Liang
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology*; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018911:Trinucleotide Repeats / Q000235:genetics*