Today marks International Ataxia Awareness Day (IAAD), which is celebrated every year on September 25th. IAAD brings people together from around the world to raise awareness about this group of rare diseases and to raise money for continuing research efforts. For more information on how you can participate in IAAD this year, take a look at the National Ataxia Foundation’s event page.
Here at SCAsource, we are celebrating IAAD 2019 by highlighting our top ten most-read articles from this year. We hope you enjoy reading these throwbacks!
10. Decreasing ATXN3 levels can alleviate some symptoms in an SCA3 mouse model
Antisense oligonucleotides: a potential treatment for SCA3 that partially rescues SCA3 disease mouse models.
9. The Discovery of SCA8
How one team uncovered the first SCA known to be caused by a CTG repeat expansion mutation.
8. Approaching the age of clinical therapy for spinocerebellar ataxia type 1
New research (published Nov. 2018) reveals promising potential genetic therapy for SCA1.
7. Protein kinase C to the Rescue in Spinocerebellar Ataxias
Protein kinase C: one protein that may help to protect against cerebellar neuronal dysfunction & death in spinocerebellar ataxias.
6. Early Cerebellum Development Abnormality in Adult-Onset Spinocerebellar Ataxia Type 1
Researchers for the first time identified that spinocerebellar ataxia type 1 (SCA1) may have roots in early cerebellar circuit malfunction.
5. Snapshot: What are Clinical Trials?
Ever wonder what clinical trial “phases” mean? Why do trials need so many phases? How does this help test how safe a new treatment is? Here’s a quick overview of how drugs get from an idea in a research lab to market.
4. Dynamic duo strikes again – Orr and Zoghbi discover the primary driver of SCA1 pathology in the cerebellum
Research group uncovers the key molecular interaction that causes spinocerebellar ataxia type 1 (SCA1).
3. ASOs clear toxic protein from cells, reducing ataxia in SCA2 mice
Scientists uncover a promising therapeutic avenue to treat spinocerebellar ataxia type 2 (SCA2).
2. A novel therapeutic approach for the treatment of SCA3
Researchers in the Netherlands uncover a new way to treat SCA3.
And last, but certainly not least:
1. Accidental discovery reveals possible link between cerebellar function and motivation
Stanford researchers accidentally discover a new role (reward prediction) for the cerebellum, the primary brain region affected by spinocerebellar ataxias.