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National Ataxia Foundation

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SCA3

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…

Two or more birds with one stone: Designing a single therapeutic strategy to treat multiple types of spinocerebellar ataxia

Written by Dr. David Bushart Edited by Dr. Hayley McLoughlin A newly-proposed treatment strategy might be effective against several forms of spinocerebellar ataxia and other CAG repeat-associated disorders Upon receiving an initial diagnosis of spinocerebellar ataxia (SCA), a swarm of questions might enter a patient’s mind. Many of these questions 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…

Huntingtin: a new player in the DNA repair arsenal

Written by Dr. Ambika Tewari Edited by Dr. Mónica Bañez-Coronel Mutations in the Huntingtin protein impair DNA repair causing significant DNA damage and altered gene expression Our genome houses the entirety of our genetic material which contains the instructions for making the proteins that are essential for all processes in Read More…

Snapshot: What is RNAi?

RNA interference, or RNAi, is a natural biological process that inhibits the expression of a specific gene. In medicine, targeted RNAi therapies can be used to silence the expression of a disease-causing gene. To understand RNAi, you first have to understand RNA. An overview of  RNA is the messager between Read More…

Zapping the brain to help ataxia

Written by Dr. Judit M. Perez Ortiz Edited by Dr. Sriram Jayabal In a new study, scientists have found that “zapping” the brain with an electromagnetic wand may someday help patients with spinocerebellar ataxia. In an era of ever-evolving technological advances used for personal entertainment and space travel, medical scientists Read More…

Recovering Purkinje cell health could improve quality of life in SCA3

Written by Jorge Diogo Da Silva Edited by Dr. David Bushart Normalizing neuronal dysfunction in SCA3/MJD by activating a receptor inside cells Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an inherited neurodegenerative disease that typically begins in mid-adulthood. This disease causes loss of coordination and Read More…

A Creatine-rich Diet Delays Disease in SCA3 Mice

Written by Dr. Lauren R. Moore Edited by Larissa Nitschke Creatine, a common dietary supplement taken by athletes, delays symptoms and improves balance and strength in SCA3 mice. Could a common nutritional supplement used by athletes to boost performance also provide benefits to ataxia patients? This was the main question Read More…

Connecting genetic repeats to symptom variability in SCA3/MJD

Written by Terry Suk Edited by Dr. Hayley McLoughlin In this classic article, researchers describe how CAG repeat number variation can inform differences in the way SCA3/MJD symptoms present. Machado-Joseph Disease (MJD) was first described in the 1970’s in four families of Azorean descent. However, it was not initially clear Read More…

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