Navegando por Palavras-chave "ataxias espinocerebelares"

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    Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
    (Academia Brasileira de Neurologia - ABNEURO, 2012-08-01) Pedroso, José Luiz [UNIFESP]; Braga-neto, Pedro [UNIFESP]; Radvany, João; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hospital Israelita Albert Einstein
    Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.
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    Parassonias do sono não-rem na doença de machado-joseph: avaliações clínica e polissonográfica
    (Universidade Federal de São Paulo (UNIFESP), 2014-08-31) Silva, Giselle Melo Fontes [UNIFESP]; Prado, Gilmar Fernandes Do Prado [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Indroduction: The majority of spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. The spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common worldwide. MJD is classically characterized by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common and include: REM sleep behavior disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. Objective: This study aims to characterize and to determinate the frequency of the NREM-related parasomnias and other sleep parameters and disorders in MJD patients compared to a control group. Materials and Methods: Forty-seven patients with clinical and genetic diagnosis of MJD and 47 control subjects were evaluated clinically and by polysomnography. Results: MJD patients had a higher frequency of arousals from slow wave sleep (p<0.001), parasomnias 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-PLMS index (p<0.001), duration and percentage of N3 sleep (p<0.001) and percentage of N1 sleep (p<0.001). However MJD patients had a lower duration of N2 sleep (p<0.001). Conclusion: These data expose that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD patients.
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    Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function
    (Academia Brasileira de Neurologia - ABNEURO, 2013-08-01) Aizawa, Carolina Yuri P. [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Braga-neto, Pedro [UNIFESP]; Callegari, Marilia Rezende [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the functional independence measure. The scale for the assessment and rating of ataxia and the international cooperative ataxia rating scale were used to evaluate disease severity. RESULTS: Most patients showed significant risk of falls. The balance scores were significantly different in spinocerebellar ataxia types. A significant positive correlation between balance and disease severity was found. CONCLUSION: Patients with spinocerebellar ataxia have important balance impairment and risk of falls that influence the ability to function such as self-care, transfers, and locomotion. Furthermore, the more severe ataxia is, the more compromised are postural balance, risk of falls, and ability to function.