Autonomic dysfunction in Machado-Joseph disease

Tu Hsueh Yeh, Chin Song Lu, Yah Huei Wu Chou, Chok Chean Chong, Tony Wu, Nai Hui Han, Rou Shayn Chen

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Objective: Machado-Joseph disease is an autosomal dominant spinocerebellar ataxia with expanded trinucleotide repeats. Although autonomic nervous system degeneration was documented in postmortem reports, the autonomic dysfunction in patients with Machado-Joseph disease, either in clinical analysis or electrophysiological investigations, has not yet been studied in detail. Methods: Fifteen patients with genetically confirmed Machado-Joseph disease and 34 healthy subjects were studied. The study design included a detailed questionnaire, R-R interval variation on deep breathing or Valsalva maneuver, and sympathetic skin response evoked by electrical stimulation of the median nerve or magnetic stimulation of the neck. Results: Sixty-seven percent of patients had at least 3 symptoms involving different aspects of autonomic functions. Voiding problems and thermoregulatory disturbance were the most common symptoms. Ten (71%) of 14 patients had abnormal R-R interval variation with a significant reduction of the mean ratio. Prolonged latency or absence of sympathetic skin response to electrical stimulation was identified in 73% of patients and to magnetic stimulation, in 53%. R-R interval variation and sympathetic skin response showed good correlation with the functional stage. Electrical stimulation revealed the highest sensitivity, specificity, and positive predictive value compared with other tests. Conclusion: The present investigation documents that autonomic dysfunction is not uncommon in patients with Machado-Joseph disease and might be related to the clinical progression.

Original languageEnglish
Pages (from-to)630-636
Number of pages7
JournalArchives of Neurology
Volume62
Issue number4
DOIs
Publication statusPublished - Apr 2005
Externally publishedYes

Fingerprint

Machado-Joseph Disease
Electric Stimulation
Skin
Trinucleotide Repeat Expansion
Spinocerebellar Ataxias
Valsalva Maneuver
Median Nerve
Autonomic Nervous System
Healthy Volunteers
Respiration
Neck
Stimulation
Sensitivity and Specificity

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Yeh, T. H., Lu, C. S., Chou, Y. H. W., Chong, C. C., Wu, T., Han, N. H., & Chen, R. S. (2005). Autonomic dysfunction in Machado-Joseph disease. Archives of Neurology, 62(4), 630-636. https://doi.org/10.1001/archneur.62.4.630

Autonomic dysfunction in Machado-Joseph disease. / Yeh, Tu Hsueh; Lu, Chin Song; Chou, Yah Huei Wu; Chong, Chok Chean; Wu, Tony; Han, Nai Hui; Chen, Rou Shayn.

In: Archives of Neurology, Vol. 62, No. 4, 04.2005, p. 630-636.

Research output: Contribution to journalArticle

Yeh, TH, Lu, CS, Chou, YHW, Chong, CC, Wu, T, Han, NH & Chen, RS 2005, 'Autonomic dysfunction in Machado-Joseph disease', Archives of Neurology, vol. 62, no. 4, pp. 630-636. https://doi.org/10.1001/archneur.62.4.630
Yeh TH, Lu CS, Chou YHW, Chong CC, Wu T, Han NH et al. Autonomic dysfunction in Machado-Joseph disease. Archives of Neurology. 2005 Apr;62(4):630-636. https://doi.org/10.1001/archneur.62.4.630
Yeh, Tu Hsueh ; Lu, Chin Song ; Chou, Yah Huei Wu ; Chong, Chok Chean ; Wu, Tony ; Han, Nai Hui ; Chen, Rou Shayn. / Autonomic dysfunction in Machado-Joseph disease. In: Archives of Neurology. 2005 ; Vol. 62, No. 4. pp. 630-636.
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