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Written by Dr. Ambika Tewari Edited by Dr. Gulin Oz Neurofilament light chain could provide a reliable readout of how far an SCA3 patient’s disease has progressed How often have you heard that the most effective way to treat a disorder is early intervention? In reality, “early” is not possible Read More…
Written by Brenda Toscano Marquez Edited by Marija Cvetanovic Insoluble clumps of mutated ataxin-1 capture essential proteins and trigger the creation of toxic reactive oxygen species. All proteins produced by our cells consist of long chains of amino acids that are coiled and bent into a particular 3D structure. Changes Read More…
Written by Dr. Siddharth Nath Edited by Dr. Sriram Jayabal SCA38 results in a deficiency of an omega-3-fatty acid called docosahexaenoic acid (DHA). Scientists from Italy had shown previously that short-term DHA supplementation reduces disease symptoms. Now, new research from the same group finds that this impact continues with long-term 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 Dr Hannah Shorrock Edited by Larissa Nitschke Repeat interruptions in SCA10 influence repeat tract stability and are associated with epileptic seizures Multiple spinocerebellar ataxias (SCAs) are caused by repeat expansion mutations, but in some cases, these repeat expansions are interrupted. The presence of repeat interruptions can influence disease 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…
Written by Dr. Amy Smith-Dijak Edited by Logan Morrison Basic biology helps identify a new treatment for ataxia Drug design doesn’t always have to start with a blank slate. Sometimes understanding how existing drugs work can help researchers to design new ones, or even to recombine old drugs in new Read More…
Written by Frida Niss Edited by Dr. Siddharth Nath Can neurodegeneration in SCA7 in part be due to faulty calcium homeostasis in the cerebellum? Polyglutamine diseases are caused by an increase in the length of CAG repeats within a specific gene. The mutation for spinocerebellar ataxia type 7 (SCA7) was Read More…
Written by Kim M. Gruver Edited by David Bushart What’s cognition got to do with ataxia? Could the cerebellum mediate both cognitive and motor symptoms in the same disease? And how can scientists use mice to find out? Spinocerebellar ataxia type 1, or SCA1, is a progressive neurodegenerative disease that Read More…
Written by Dr. Michael Flower Edited by Dr. Rachel Harding Editor’s Note: This article was initially published by HDBuzz on March 13, 2020. They have graciously allowed us to build on their work and add a section on how this research may be relevant to ataxia. This additional writing was Read More…
