Topical Collection "Spinocerebellar Ataxia (SCA): Molecular Mechanisms and Novel Treatment Strategies"
Interests: MJD/SCA3; polyglutamine diseases; function of polyglutamine proteins; therapeutic approaches for polyglutamine diseases; molecular mechanisms and biomarkers of neurodegeneration; genetics of dynamic repeat disorders
Spinocerebellar ataxias (SCAs) are a group of autosomal dominant inherited diseases of usual onset in adult life. SCAs are phenotypically and genetically heterogeneous disorders with no currently available disease-modifying treatment.
While the major clinical signs of SCAs are progressive gait ataxia, typically accompanied by dysarthria and visual problems, several other symptoms can appear such as limb and trunk ataxia, tremor, rigidity, dystonia, bradykinesia, and cognitive impairment.
Presently, 48 SCAs can be discerned by the identified mutation or the chromosomal location of their associated disease genes. The most prevalent group of SCAs, accounting for more than 50% of the known SCAs, are caused by expansions of CAG repeats, encoding polyglutamine (polyQ) tracts in the disease proteins, and are therefore designated as polyQ SCAs. Other less-common SCAs are caused by the expansion of other nucleotide repeats, point mutations, deletions, insertions, and duplications in the disease genes.
Overall, research efforts have been showing that whereas SCAs may share disease mechanisms that can be therapeutically targeted for all SCAs, given the heterogenous genetic causes, specific therapeutic strategies for each SCA or subgroup of SCAs may be comparatively more successful. Preclinical research—mostly for the polyQ SCAs—has indeed generated some therapeutic agents that are about to approaching testing in patients.
In this Topical Collection we invite all scientists working on spinocerebellar ataxias to contribute original research articles, reviews, communications, and short perspective articles on all aspects related to molecular mechanisms and novel treatment strategies for SCAs. We particularly welcome articles describing mechanistic insights at the molecular, cellular, or organismal level, as well as those providing translational value.
Dr. Maria do Carmo Costa
Manuscript Submission Information
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- spinocerebellar ataxia
- therapeutic approaches
- disease mechanisms
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