Nonmotor and extracerebellar features in Machado-Joseph disease: A review

Nonmotor and extracerebellar features in Machado-Joseph disease: A review

Author Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Franca, Marcondes C. Google Scholar
Braga-Neto, Pedro Autor UNIFESP Google Scholar
D'Abreu, Anelyssa Google Scholar
Saraiva-Pereira, Maria Luiza Google Scholar
Saute, Jonas Alex Google Scholar
Teive, Helio Afonso Ghizoni Google Scholar
Caramelli, Paulo Google Scholar
Jardim, Laura Bannach Google Scholar
Lopes-Cendes, Iscia Google Scholar
Barsottini, Orlando Graziani Povoas Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
Univ Fed Rio Grande do Sul
Hosp Clin Porto Alegre
Universidade Federal do Paraná (UFPR)
Universidade Federal de Minas Gerais (UFMG)
Abstract 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. (c) 2013 Movement Disorder Society
Keywords spinocerebellar ataxia type 3
Machado-Joseph disease
nonmotor symptoms
extracerebellar signs
Language English
Date 2013-08-01
Published in Movement Disorders. Hoboken: Wiley-Blackwell, v. 28, n. 9, p. 1200-1208, 2013.
ISSN 0885-3185 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1200-1208
Access rights Closed access
Type Review
Web of Science ID WOS:000323830100007

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