title: 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, 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.
authors.affiliation: Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. jlpedroso.neuro@gmail.com
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: Marcondes C
authors.initials: MC
authors.lastname: França
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.forename: Anelyssa
authors.initials: A
authors.lastname: D'Abreu
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.forename: Jonas A
authors.initials: JA
authors.lastname: Saute
authors.forename: Hélio A
authors.initials: HA
authors.lastname: Teive
authors.forename: Paulo
authors.initials: P
authors.lastname: Caramelli
authors.forename: Laura Bannach
authors.initials: LB
authors.lastname: Jardim
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: Orlando Graziani P
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000067699:Ataxin-3; D001921:Brain / Q000473:pathology*; D003072:Cognition Disorders / Q000209:etiology; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D001523:Mental Disorders / Q000209:etiology; D009069:Movement Disorders / Q000209:etiology*; D009120:Muscle Cramp / Q000209:etiology; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D009748:Nutrition Disorders / Q000209:etiology; D010146:Pain / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D012097:Repressor Proteins / Q000235:genetics; D012893:Sleep Wake Disorders / Q000209:etiology
chemical_list: D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3
keywords: Machado-Joseph disease; extracerebellar signs; nonmotor symptoms; spinocerebellar ataxia type 3