Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD)

  • Manuela Lima
  • Mafalda Raposo
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1049)


Whereas spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) remains an untreatable disorder, disease-modifying compounds have begun being tested in the context of clinical trials; their success is dependent on the sensitivity of the methods used to measure subtle therapeutic benefits. Thus, efforts are being made to propose a battery of potential outcome measures, including molecular biomarkers (MBs), which remain to be identified; MBs are particularly pertinent if SCA3 trials are expected to enroll preataxic subjects. Recently, promising candidate MBs of SCA3 have emerged from gene expression studies. In this chapter we provide a synthesis of the cross-sectional and pilot longitudinal studies of blood-based transcriptional biomarkers conducted so far. Other alterations with potential to track the progression of SCA3, such as those involving mitochondrial DNA (mtDNA) are also referred. It is expected that a set of molecular biomarkers can be identified; these will be used in complementarity with clinical and imaging markers to fully track SCA3, from its preataxic phase to the disease stage.


Polyglutamine disorders Biochemical markers Transcriptional dysregulation RNA Trait biomarkers State biomarkers 


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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Departamento de Biologia, Faculdade de Ciências e TecnologiaUniversidade dos AçoresPonta DelgadaPortugal
  2. 2.Instituto de Investigação e Inovação em Saúde (I3S)Universidade do PortoPortoPortugal
  3. 3.Instituto de Biologia Molecular e Celular (IBMC)Universidade do PortoPortoPortugal

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