The Cerebellum

, Volume 11, Issue 4, pp 1057–1060 | Cite as

Cutaneous Sympathetic Dysfunction in Patients with Machado–Joseph Disease

  • Yoshitaka YamanakaEmail author
  • Masato Asahina
  • Yuichi Akaogi
  • Yoshikatsu Fujinuma
  • Akira Katagiri
  • Kazuaki Kanai
  • Satoshi Kuwabara
Original Paper


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.


Machado–Joseph disease Cutaneous sympathetic function Sympathetic sweat response Cutaneous vasomotor reflex 


Conflict of Interest

The authors have no conflicts of interest to declare.


  1. 1.
    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
  2. 2.
    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
  3. 3.
    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
  4. 4.
    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
  5. 5.
    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
  6. 6.
    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
  7. 7.
    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
  8. 8.
    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
  9. 9.
    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
  10. 10.
    Gibbs MB, English 3rd JC, Zirwas MJ. Livedo reticularis: an update. J Am Acad Dermatol. 2005;52:1009–19.PubMedCrossRefGoogle Scholar
  11. 11.
    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
  12. 12.
    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
  13. 13.
    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
  14. 14.
    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.
  15. 15.
    Blessing WW. Lower brainstem pathways regulating sympathetically mediated changes in cutaneous blood flow. Cell Mol Neurobiol. 2003;23:527–38.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Yoshitaka Yamanaka
    • 1
    Email author
  • Masato Asahina
    • 1
  • Yuichi Akaogi
    • 1
  • Yoshikatsu Fujinuma
    • 1
  • Akira Katagiri
    • 1
  • Kazuaki Kanai
    • 1
  • Satoshi Kuwabara
    • 1
  1. 1.Department of Neurology, School of MedicineChiba UniversityChibaJapan

Personalised recommendations