title: Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).
abstract: BACKGROUND
  Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. Autonomic nervous system involvement (ANS) is not considered part of SBMA. The aim of this study was to assess autonomic cardiovascular function in 5 SBMA patients.
  
  
  METHODS
  Five quantitative autonomic function tests (AFTs) were performed in 5 SBMA patients. Plasma noradrenaline (NA) concentration in patients and in 5 healthy subjects was also measured.
  
  
  RESULTS
  AFTs were abnormal in 4 of the 5 patients, and plasma NA concentration was significantly reduced in patients with respect to controls.
  
  
  CONCLUSIONS
  The impairment of cardiovascular responses to AFTs in addition to reduced plasma NA concentration observed in our patients suggests subclinical involvement of the ANS in Kennedy disease.
authors: Department of Neuroscience, University of Rome Tor Vergata, 00133 Rome, Italy. camillarocchi@gmail.com
authors: Camilla
authors: C
authors: Rocchi
authors: Viviana
authors: V
authors: Greco
authors: Andrea
authors: A
authors: Urbani
authors: Alessandra
authors: A
authors: Di Giorgio
authors: Marina
authors: M
authors: Priori
authors: Roberto
authors: R
authors: Massa
authors: Giorgio
authors: G
authors: Bernardi
authors: Girolama A
authors: GA
authors: Marfia
mesh_terms: D000328:Adult; D001341:Autonomic Nervous System / Q000503:physiopathology; D001342:Autonomic Nervous System Diseases / Q000097:blood / Q000175:diagnosis / Q000503:physiopathology*; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000097:blood / Q000175:diagnosis / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009638:Norepinephrine / Q000097:blood; D011944:Receptors, Androgen / Q000097:blood
chemical_list: D011944:Receptors, Androgen; D009638:Norepinephrine