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SCA7

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…

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…

Mitochondrial impairments identified in SCA7 mouse model and patient cells

Written by Dr. Colleen A. Stoyas Edited by Dr. Monica Banez  Duke University researchers have found that altered cellular metabolism and mitochondrial dysfunction play a central role in spinocerebellar ataxia type 7 (SCA7), a result that has therapeutic implications for this disease. Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited ataxia Read More…

Blurred lines: how spinocerebellar ataxia type 7 impacts vision

Written by Siddharth Nath Edited by Dr. Ray Truant Spinocerebellar ataxia type 7 (SCA7) is unique amongst the SCAs in that it involves an organ besides the brain – the eye. Rather than problems with movement, the first hint that something may be wrong for SCA7 patients is often a subtle change 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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