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Written by Dr. Ambika Tewari Edited by Dr. Maria do Carmo Costa Mutations in Ataxin-3 protein prevent the normal functioning of a DNA repair enzyme leading to an accumulation of errors Cells are bombarded by thousands of DNA damaging events each day from internal and external sources. Internal sources include Read More…
Written by Dr. Ronald Buijsen Edited by Dr. Larissa Nitschke O’Callaghan and colleagues show that novel therapeutic approaches to reduce the disease-causing protein in SCA1 do not increase the risk of developing cancer or Alzheimer’s disease in SCA1 mice. People affected with Spinocerebellar Ataxia type 1 or SCA1 carry an Read More…
Written by Dr. Ambika Tewari Edited by Dr. Sriram Jayabal Targeting phosphatases in the cerebellum can correct miscommunication in multiple models of ataxia. The cerebellum is essential for motor coordination and consists of the coordinated activity of different types of cells. Purkinje cells are one of the most fascinating cell Read More…
Written by Dr. Sriram Jayabal Edited by Dr. Ray Truant A potential new pathway for SCA17: gene therapy that in mice restores a critical protein deficit protects brain cells from death in SCA17. Neurodegenerative ataxias are a group of brain disorders that progressively affect one’s ability to make fine coordinated Read More…
Written by Stephanie Coffin Edited by Dr. Brenda Toscano Ataxin-1 may not be the only protein important in driving neurodegeneration in SCA1 Why does a protein that cause disease only cause toxicity in specific regions of the brain, despite being in all cells of the body? This is the question Read More…
Patients with ataxia share many common symptoms, including a loss of coordination. While these symptoms might be easy to see in patients, testing movement ability is not as straightforward in mouse models of ataxia. Because of this, researchers use something called the “rotarod performance test” to assess motor coordination and Read More…
Principal Investigator: Dr. Willeke van Roon-Mom Location: Leiden University Medical Centre, Leiden, The Netherlands Year Founded: 1995 What disease areas do you research? SCA1 SCA3 Huntington’s Disease Dutch – Cerebral Amyloid Angiopathy Alzheimer Disease What models and techniques do you use? Mouse Models hiPSC-derived stem cells models Post-mortem patient tissue Read More…
Principal Investigator: Dr. Alanna Watt Location: McGill University, Montreal, Canada Year Founded: 2011 What disease areas do you research? SCA6 ARSACS Aging Basic questions about how the cerebellum functions. What models and techniques do you use? Animal models of ataxia and aging Electrophysiology Imaging RNA sequencing Behavioural assays Research Focus Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Ronald Buijsen Researchers from the University of California show they can “edit” the Frataxin gene in human cells from Friedreich’s Ataxia and transplant them into mice. This lays the groundwork for this method to be tested for safety. Friedreich’s ataxia is a Read More…
Written by Ambika Tewari Edited by Brenda Toscano Márquez Trehalose, a natural autophagy inducer shows promise as a therapeutic candidate for MJD/SCA3 Every cell has an elaborate set of surveillance mechanisms to ensure optimal functioning. As proteins are synthesized, errors can occur leading to misfolded proteins. These abnormal proteins can Read More…
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