Navegando por Palavras-chave "spinocerebellar ataxia type 3"

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    Nonmotor and extracerebellar features in Machado-Joseph disease: A review
    (Wiley-Blackwell, 2013-08-01) 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)
    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
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    NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation
    (Wiley-Blackwell, 2016) Fontes Silva, Giselle Melo [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Dos Santos, Diogo Fernandes [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Prado, Lucila Bizari Fernandes Do [UNIFESP]; Carvalho, Luciane Bizari Coin De [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Do Prado, Gilmar Fernandes [UNIFESP]
    Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)MJD/SCA3is the most common SCA worldwide. MJD/SCA3 is characterized classically by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common, and include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. This study aims to focus upon determining the presence or not of non-REM (NREM)-related parasomnias in MJD/SCA 3, using data from polysomnography (PSG) and clinical evaluation. Forty-seven patients with clinical and genetic diagnosis of MJD/SCA3 and 47 control subjects were evaluated clinically and by polysomnography. MJD/SCA3 patients had a higher frequency of arousals from slow wave sleep (P<0.001), parasomnia complaints (confusional arousal/sleep terrors, P=0.001; RBD, P<0.001; and nightmares, P<0.001), REM sleep without atonia (P<0.001), periodic limb movements of sleep index (PLMSi) (P<0.001), percentage of N3 sleep (P<0.001) and percentage of N1 sleep (P<0.001). These data show that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD/SCA3 patients.
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    NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation
    (Wiley-Blackwell, 2016) Fontes Silva, Giselle Melo [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Dos Santos, Diogo Fernandes [UNIFESP]; Braga-Neto, Pedro [UNIFESP]; Prado, Lucila Bizari Fernandes Do [UNIFESP]; Carvalho, Luciane Bizari Coin De [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Do Prado, Gilmar Fernandes [UNIFESP]
    Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)MJD/SCA3is the most common SCA worldwide. MJD/SCA3 is characterized classically by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common, and include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. This study aims to focus upon determining the presence or not of non-REM (NREM)-related parasomnias in MJD/SCA 3, using data from polysomnography (PSG) and clinical evaluation. Forty-seven patients with clinical and genetic diagnosis of MJD/SCA3 and 47 control subjects were evaluated clinically and by polysomnography. MJD/SCA3 patients had a higher frequency of arousals from slow wave sleep (P<0.001), parasomnia complaints (confusional arousal/sleep terrors, P=0.001; RBD, P<0.001; and nightmares, P<0.001), REM sleep without atonia (P<0.001), periodic limb movements of sleep index (PLMSi) (P<0.001), percentage of N3 sleep (P<0.001) and percentage of N1 sleep (P<0.001). These data show that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD/SCA3 patients.
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    Sleep disorders in Machado-Joseph disease
    (Lippincott Williams & Wilkins, 2016) Pedroso, Jose Luiz [UNIFESP]; Braga-Neto, Pedro; Martinez, Alberto R. M.; Martins Junior, Carlos R.; Rezende Filho, Flavio Moura [UNIFESP]; Sobreira-Neto, Manoel A.; Prado, Lucila Bizari Fernandes do [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Franca Junior, Marcondes C.; Barsottini, Orlando Graziani Povoas [UNIFESP]
    Purpose of reviewThis article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).Recent findingsPathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum. Nonmotor manifestations are frequent and may include pain, cramps, dysautonomia, cognitive deficits, psychiatric manifestations, olfactory deficits, fatigue, nutritional issues, and sleep disorders.SummarySleep disorders are frequent in MJD, and include restless legs syndrome, rapid eye movement sleep behavior disorder, excessive daytime sleepiness, insomnia, sleep apnea, periodic limb movements during sleep, parasomnia, and others. Pathophysiological mechanisms related to sleep disorders in Machado-Joseph are complex and poorly understood. Considering that sleep complaints are a treatable condition, recognizing sleep disorders in MJD is relevant.