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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…
Written by Logan Morrison Edited by Dr. Hayley McLoughlin Research group uncovers the key molecular interaction that causes spinocerebellar ataxia type 1 (SCA1). When we talk and think about human disease, it is natural to focus on causes. For some disorders, the source of the problem is clear: there’s no Read More…
Written by Dr. Vitaliy V Bondar Edited by Dr. Chandrakanth Edamakanti Researchers for the first time identified that spinocerebellar ataxia type 1 (SCA1) may have roots in early cerebellar circuit malfunction. Since the discovery of the cause of SCA1, researchers have wondered: why does it take three to four decades Read More…
