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SCA2

Snapshot: What does dominant ataxia mean?

Ataxias can occur due to a multitude of reasons. One way a patient might acquire ataxia is from an accident or an injury – not as a result of genetics. On the other hand, a patient could also inherit a specific mutation (a genetic defect, in other words) from one Read More…

Les yeux, des fenêtres pour voir la fonction cérébrale dans les ataxies spinocérébelleuses

Écrit par Dr Sriram Jayabal, Édité par Dr David Bushart, Traduction française par: L’Association Alatax, Publication initiale: 20 décembre 2019  Les déficits de mouvement oculaire se produisent de manière omniprésente dans les ataxies spinocérébelleuses, même aux premiers stades de la maladie, soulignant leur importance clinique. Imaginez les différents mouvements moteurs Read More…

Working with cerebellar ataxia

Written by Dr. David Bushart Edited by Dr. Sriram Jayabal How can employment be made more accessible for ataxia patients? What barriers exist? A study of workers and non-workers with ataxia analyzes the benefit of employment, as well as how to reduce risk of injury. A job can often become Read More…

Snapshot: How does CAG tract length affect ataxia symptom onset?

The instructions our bodies need to grow and function are contained in our genes. These instructions are made up of tiny structures called nucleobases. There are four types of nucleobases in DNA: adenine (A), cytosine (C), guanine (G), thymine (T). By putting these four nucleobases in different orders and patterns, Read More…

Eyes: Windows to peek at brain function in spinocerebellar ataxias

Written by Dr. Sriram Jayabal Edited by Dr. David Bushart Eye movement deficits occur ubiquitously in spinocerebellar ataxias, even at early disease states, highlighting their clinical importance. Imagine the different motor movements that you make in your everyday life. Many people think of actions that we perform using our hands Read More…

Mitochondrially Stressed

Written by Dr. Judit M. Pérez Ortiz Edited by Dr. Brenda Toscano Márquez Scientists describe how SCA2 oxidative stress can affect mitochondrial function, and potentially how to fix it Mitochondrial Stress We all have experienced stress. When cramming for an exam last minute, or getting ready for a job interview, Read More…

ASOs clear toxic protein from cells, reducing ataxia in SCA2 mice

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…

DNA Damage Repair: A New SCA Disease Paradigm

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…

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