Although the clinical symptoms of Machado–Joseph disease (MJD) vary widely, those involving the autonomic nervous system, such as cutaneous sympathetic dysfunction, have rarely been investigated. In addition, there are no reports on cutaneous vasomotor function in patients with MJD. To determine the effects of MJD on cutaneous sympathetic function, we evaluated cutaneous vasomotor and sudomotor responses in the palms of 15 patients (mean age, 49 ± 15 years; seven men and eight women) who were genetically diagnosed with MJD as well as in the palms of 15 age-matched, healthy controls (mean age, 48 ± 16 years; nine men and six women). Sweat response was absent in 10 (67 %) patients with MJD, and the mean amplitude of sweat response was significantly lower (p < 0.0001) in patients with MJD than in healthy controls following mental stress (mental arithmetic) and physiological stimuli. Although vasoconstrictive response was absent in three patients with MJD (20 %), there were no significant differences in the mean amplitude of vasoconstrictive response between patients with MJD and healthy controls. These results indicate that patients with MJD have reduced cutaneous sympathetic response, including severely impaired sudomotor functions and mildly affected vasomotor functions.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221–8.PubMedCrossRefGoogle Scholar
Asahina M, Katagiri A, Yamanaka Y, Akaogi Y, Fukushima T, Kanai K, et al. Spectral analysis of heart rate variability in patients with Machado-Joseph disease. Auton Neurosci. 2010;154:99–101.PubMedCrossRefGoogle Scholar
Yeh TH, Lu CS, Chou YH, Chong CC, Wu T, Han NH, et al. Autonomic dysfunction in Machado-Joseph disease. Arch Neurol. 2005;62:630–6.PubMedCrossRefGoogle Scholar
Franca Jr MC, D'Abreu A, Nucci A, Lopes-Cendes I. Clinical correlates of autonomic dysfunction in patients with Machado-Joseph disease. Acta Neurol Scand. 2010;121:422–5.PubMedCrossRefGoogle Scholar
Vetrugno R, Liguori R, Cortelli P, Montagna P. Sympathetic skin response: basic mechanisms and clinical applications. Clin Auton Res. 2003;13:256–70.PubMedCrossRefGoogle Scholar
Asahina M, Kikkawa Y, Suzuki A, Hattori T. Cutaneous sympathetic function in patients with multiple system atrophy. Clin Auton Res. 2003;13:91–5.PubMedCrossRefGoogle Scholar
Kikkawa Y, Asahina M, Suzuki A, Hattori T. Cutaneous sympathetic function and cardiovascular function in patients with progressive supranuclear palsy and Parkinson's disease. Parkinsonism Relat Disord. 2003;10:101–6.PubMedCrossRefGoogle Scholar
Asahina M, Yamanaka Y, Akaogi Y, Kuwabara S, Koyama Y, Hattori T. Measurements of sweat response and skin vasomotor reflex for assessment of autonomic dysfunction in patients with diabetes. J Diabetes Complications. 2008;22:278–83.PubMedCrossRefGoogle Scholar
Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997;145:205–11.PubMedCrossRefGoogle Scholar
Yamada M, Hayashi S, Tsuji S, Takahashi H. Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease. Acta Neuropathol. 2001;101:140–4.PubMedGoogle Scholar
Asahina M, Sakakibara R, Liu Z, Ito T, Yamanaka Y, Nakazawa K, et al. The raphe magnus/pallidus regulates sweat secretion and skin vasodilation of the cat forepaw pad: a preliminary electrical stimulation study. Neurosci Lett. 2007;415:283–7.PubMedCrossRefGoogle Scholar
Asahina M, Fujinuma Y, Yamanaka Y, Fukushima T, Katagiri A, Ito S, et al. Diminished emotional sweating in patients with limbic encephalitis. J Neurol Sci. 2011;306:16–9.PubMedCrossRefGoogle Scholar
D'Abreu A, Franca Jr MC, Yasuda CL, Campos BA, Lopes-Cendes I, Cendes F. Neocortical atrophy in machado-joseph disease: a longitudinal neuroimaging study. J Neuroimaging. 2011. doi:10.1111/j.1552-6569.2011.00614.x.