Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! Register now. LEARN MORE!
Written by Anna Cook and Dr. Alanna Watt Edited by Dr. Vitaliy V. Bondar Scientists uncover a promising therapeutic avenue to treat spinocerebellar ataxia type 2 (SCA2). Spinocerebellar ataxia type 2 (SCA2) is a progressive ataxia caused by a mutation in the ATXN2 gene. This mutation causes a tract of the amino Read More…
Written by Dr. Laura Bowie Edited by Dr. Hayley McLoughlin Researchers use genetics to find new pathways that impact the onset of polyglutamine disease symptoms The cells of the human body are complex little machines, specifically evolved to fulfill certain roles. Brain cells, or neurons, act differently from skin cells, which, in Read More…
Written by Dr. Terri M Driessen Edited by Dr. W.M.C. van Roon-Mom Antisense oligonucleotides: a potential treatment for SCA3 that partially rescues SCA3 disease mouse models Identifying new ways to slow down or delay neurodegenerative diseases has been a key research focus in the SCA field. There are many avenues that scientists Read More…
Written by Dr. David D. Bushart Edited by Dr. Carolyn J. Adamski How one research group worked to identify previously unknown causes of SCA13, and what we can learn from their strategy. With so many different causes of cerebellar ataxia, how are doctors able to make an accurate diagnosis? This is Read More…
Written by Siddharth Nath Edited by Dr. Ray Truant Oxidative stress is a hot topic in neurodegenerative disease research. New findings from Dr. Jonathan Magaña’s lab in Mexico show increases in measures of damage from oxygen compounds in SCA7 patients versus healthy individuals. This suggests that this type of chemical stress may Read More…
Written by Dr. Hayley McLoughlin Edited by Dr. Gülin Öz Is Staufen1 a kink in the SCA2 toxicity chain that can be exploited? When a cell is stressed, it can initiate a mechanism to protect messenger RNAs (mRNAs) from harmful conditions. It does this by segregating the mRNAs, then packaging Read More…
Written by Dr. Chandrakanth Edamakanti Edited by Dr. Hayley McLoughlin Recent study decodes the protein signature of toxic Purkinje cells, finding that Purkinje cell mTORC1 signaling is impaired in SCA1. Spinocerebellar ataxia type 1 (SCA1) is a late onset cerebellar neurodegenerative disorder caused by a mutation (in this case, an Read More…
Written by Dr. Hannah K Shorrock Edited by Dr. Judit M Perez Ortiz How one team uncovered the first SCA known to be caused by a CTG repeat expansion mutation Identifying the gene that causes a type of ataxia not only gives patients and their families a clearer diagnosis and prognosis, Read More…
About six months ago, scientists from all over the world converged on the 2018 Ataxia Investigators Meeting. Colleagues and students discussed the latest advancements in ataxia research. Researchers were able to connect with patients and families, letting them know what progress was being made. Some of the discussion between trainees Read More…
Written By Dr. Marija Cvetanovic Edited by Dr. Sriram Jayabal Protein kinase C: one protein that may help to protect against cerebellar neuronal dysfunction & death in spinocerebellar ataxias Among the estimated 86 billion brain cells (known as “neurons”) in the human body (Azevedo et al., 2009), there is a Read More…
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