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Ataxia

Connecting the dots between genetics and disease in SCA13

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…

Molecular Mechanism behind Purkinje Cell Toxicity in SCA1 Uncovered

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…

The Discovery of SCA8

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…

Welcome to SCAsource!

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…

Protein kinase C to the Rescue in Spinocerebellar Ataxias

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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