State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change.
作者： Gabriel Vasata Furtado , Camila Maria de Oliveira , Gabriela Bolzan , Jonas Alex Morales Saute , Maria Luiza Saraiva-Pereira
DOI: 10.1590/1678-4685-GMB-2018-0103
关键词:
摘要: 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 modifying treatment. Clinical scales used measure progression present moderate effect sizes, major drawback for their use as main outcomes clinical trials, given rarity slow of disease. This limitation might be overcome by finding good surrogate markers. We here review studies on peripheral neurophysiological markers that can candidates state biomarkers. Data already studied were summarized, giving emphasis validation against scale, responsiveness change. While some biological fluid compounds parameters showed poor responsiveness, others seemed candidates. Some potential are waiting serum levels neuron specific enolase, vestibulo-ocular reflex video-oculography. Candidates evaluated RNA microRNA expression need further improve measurements. Beclin-1 DNAJB1 promising but still incipient. conclude several should follow onto validating biomarkers SCA3/MJD.
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