INTRODUCTION: 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. CONCLUSION: 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.
INTRODUCTION: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 SBMApatients. METHODS: Five quantitative autonomic function tests (AFTs) were performed in 5 SBMApatients. 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. CONCLUSION: 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: Christopher Grunseich; Ilona R Kats; Laura C Bott; Carlo Rinaldi; Angela Kokkinis; Derrick Fox; Ke-Lian Chen; Alice B Schindler; Ami K Mankodi; Joseph A Shrader; Daniel P Schwartz; Tanya J Lehky; Chia-Ying Liu; Kenneth H Fischbeck Journal: Neuromuscul Disord Date: 2014-07-03 Impact factor: 4.296