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Title: Nonmotor and extracerebellar features in Machado-Joseph disease: A review
Authors: Pedroso, Jose Luiz [UNIFESP]
Franca, Marcondes C.
Braga-Neto, Pedro [UNIFESP]
D'Abreu, Anelyssa
Saraiva-Pereira, Maria Luiza
Saute, Jonas Alex
Teive, Helio Afonso Ghizoni
Caramelli, Paulo
Jardim, Laura Bannach
Lopes-Cendes, Iscia
Barsottini, Orlando Graziani Povoas [UNIFESP]
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)
Keywords: spinocerebellar ataxia type 3
Machado-Joseph disease
nonmotor symptoms
extracerebellar signs
Issue Date: 1-Aug-2013
Publisher: Wiley-Blackwell
Citation: Movement Disorders. Hoboken: Wiley-Blackwell, v. 28, n. 9, p. 1200-1208, 2013.
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
ISSN: 0885-3185
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