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

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, physiologi...

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Published in:Movement disorders 2013-08, Vol.28 (9), p.1200-1208
Main Authors: Pedroso, José Luiz, França Jr, Marcondes C., Braga-Neto, Pedro, D'Abreu, Anelyssa, Saraiva-Pereira, Maria Luiza, Saute, Jonas A., Teive, Hélio A., Caramelli, Paulo, Jardim, Laura Bannach, Lopes-Cendes, Iscia, Barsottini, Orlando Graziani P.
Format: Article
Language:English
Subjects:
Ataxin-3
Brain - pathology
Cognition Disorders - etiology
extracerebellar signs
Humans
Machado-Joseph disease
Machado-Joseph Disease - genetics
Machado-Joseph Disease - pathology
Machado-Joseph Disease - physiopathology
Mental Disorders - etiology
Movement disorders
Movement Disorders - etiology
Muscle Cramp - etiology
Nerve Tissue Proteins - genetics
nonmotor symptoms
Nuclear Proteins - genetics
Nutrition Disorders - etiology
Pain - etiology
Peripheral Nervous System Diseases - etiology
Repressor Proteins - genetics
Sleep Wake Disorders - etiology
spinocerebellar ataxia type 3
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Summary: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. © 2013 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.25513