These authors contributed equally to this work.
Nonmotor and extracerebellar features in Machado-Joseph disease: A review
Version of Record online: 17 JUN 2013
Copyright © 2013 Movement Disorder Society
Volume 28, Issue 9, pages 1200–1208, August 2013
How to Cite
Pedroso, J. L., França, M. C., Braga-Neto, P., D'Abreu, A., Saraiva-Pereira, M. L., Saute, J. A., Teive, H. A., Caramelli, P., Jardim, L. B., Lopes-Cendes, I. and Barsottini, O. G. P. (2013), Nonmotor and extracerebellar features in Machado-Joseph disease: A review. Mov. Disord., 28: 1200–1208. doi: 10.1002/mds.25513
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue online: 3 SEP 2013
- Version of Record online: 17 JUN 2013
- Manuscript Accepted: 16 APR 2013
- Manuscript Revised: 27 MAR 2013
- Manuscript Received: 15 JAN 2013
- spinocerebellar ataxia type 3;
- Machado-Joseph disease;
- nonmotor symptoms;
- extracerebellar signs
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society