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National Ataxia Foundation

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ARSACS

Spotlight: The Watt Lab

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…

The importance of balancing Sacsin protein levels in ARSACS

Written by Dr. Ambika Tewari Edited by Larissa Nitschke Tipping the balance of the protein Sacsin alters outcomes in a mouse model of ARSACS There are many different types of ataxia, each with a unique cause. For several ataxias, the mutated gene that causes the disorder has been identified. This Read More…

Aperçu Rapide: Qu’est-ce que l’ataxie récessive ?

Qu’est-ce qu’un trouble récessif ? Un trouble récessif est un trouble qui a un mécanisme de maladie spécifique. Pour qu’un trouble récessif se produise, les deux copies du gène responsable doivent être mutées pour qu’un patient présente des symptômes. Les ataxies qui suivent ce mécanisme de la maladie sont connues Read More…

Designing a new “measuring stick” for ARSACS

Written by Dr. Brenda Toscano Márquez  Edited by Dr. Ray Truant ARSACS researchers develop a better “measuring stick”, or disease severity index that can help better assess the progression of motor symptoms and compare different groups of ARSACS patients. How does your doctor know you are sick? In short: measurements. Read More…

Snapshot: What is recessive ataxia?

What is a recessive disorder? A recessive disorder is one that has a specific disease mechanism. For a recessive disorder to occur, both copies of the causative gene must be mutated for a patient to show symptoms.  Ataxias that follow this disease mechanism are known as recessive ataxia. However, having Read More…

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