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| Furtado,Gabriel Vasata; Oliveira,Camila Maria de; Bolzan,Gabriela; Saute,Jonas Alex Morales; Saraiva-Pereira,Maria Luiza; Jardim,Laura Bannach. |
| Abstract Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trials, given the rarity and slow progression of the disease. This limitation might be overcome by finding good surrogate markers. We present here a review of studies on peripheral and neurophysiological markers in SCA3/MJD that can be candidates for state biomarkers. Data on markers already studied were summarized, giving emphasis on validation against... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Biomarkers; Neurophysiology; Machado-Joseph disease; Spinocerebellar ataxia type 3. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200238 |
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| Silva,R.C.R.; Saute,J.A.M.; Silva,A.C.F.; Coutinho,A.C.O.; Saraiva-Pereira,M.L.; Jardim,L.B.. |
| Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined in these diseases. Our aim was to investigate the effect of OT on both physical disabilities and depressive symptoms of spinocerebellar ataxia type 3 (SCA3) patients. Genomically diagnosed SCA3 patients older than 18 years were invited to participate in the study. Disability, as evaluated by functional independence measurement and Barthel incapacitation score, Hamilton Rating Scale for Depression,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Spinocerebellar ataxia 3; Occupational therapy; Rehabilitation; Depression; Machado-Joseph disease; Polyglutamine diseases. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000600003 |
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