Chapter title |
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD)
|
---|---|
Chapter number | 16 |
Book title |
Polyglutamine Disorders
|
Published in |
Advances in experimental medicine and biology, January 2018
|
DOI | 10.1007/978-3-319-71779-1_16 |
Pubmed ID | |
Book ISBNs |
978-3-31-971778-4, 978-3-31-971779-1
|
Authors |
Manuela Lima, Mafalda Raposo, Lima, Manuela, Raposo, Mafalda |
Abstract |
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. |
X Demographics
As of 1 July 2024, you may notice a temporary increase in the numbers of X profiles with Unknown location. Click here to learn more.
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 25% |
Argentina | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 35 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 5 | 14% |
Student > Ph. D. Student | 5 | 14% |
Researcher | 3 | 9% |
Student > Master | 2 | 6% |
Professor | 1 | 3% |
Other | 2 | 6% |
Unknown | 17 | 49% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 7 | 20% |
Biochemistry, Genetics and Molecular Biology | 5 | 14% |
Medicine and Dentistry | 4 | 11% |
Agricultural and Biological Sciences | 2 | 6% |
Unknown | 17 | 49% |