Document Detail

Autonomic dysfunction in Machado-Joseph disease.
MedLine Citation:
PMID:  15824264     Owner:  NLM     Status:  MEDLINE    
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.
Tu-Hsueh Yeh; Chin-Song Lu; Yah-Huei Wu Chou; Chok-Chean Chong; Tony Wu; Nai-Hui Han; Rou-Shayn Chen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of neurology     Volume:  62     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-04-12     Completed Date:  2005-05-10     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  630-6     Citation Subset:  AIM; IM    
First Department of Neurology and Human Molecular Genetic Laboratory, Chang Gung Memorial Hospital, Taipei, Taiwan.
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MeSH Terms
Arrhythmias, Cardiac / diagnosis,  etiology,  physiopathology
Autonomic Nervous System Diseases / diagnosis,  etiology*,  physiopathology*
Body Temperature Regulation / genetics
Cold Temperature / adverse effects
Electric Stimulation
Machado-Joseph Disease / complications*,  physiopathology*
Middle Aged
Neurologic Examination
Skin / innervation,  physiopathology
Sympathetic Fibers, Postganglionic / physiopathology
Urinary Bladder, Neurogenic / diagnosis,  etiology,  physiopathology
Vasoconstriction / physiology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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