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

Arch Neurol. 2005;62:630-636.

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.

Author Affiliations: First Department of Neurology (Drs Yeh, Lu, Wu, Han, and Chen) and Human Molecular Genetic Laboratory (Dr Chou), Chang Gung Memorial Hospital, Taipei, Taiwan; Department of Neurology, Da Chien General Hospital, Miaoli, Taiwan (Dr Chong).

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