SCA7 Archives - Page 2 of 2 - National Ataxia Foundation

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

April 8, 2020

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…

A Potential Treatment for Universal Lowering of all Polyglutamine Disease Proteins

March 27, 2020

Written by Frida Niss Edited by Dr. Hayley McLoughlin One drug to treat them all: an approach using RNA interference to selectively lower the amount of mutant protein in all polyglutamine diseases. Work by a group in Poland shows initial success in Huntington’s Disease, DRPLA, SCA3/MJD, and SCA7 patient cells. Read More…

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

January 10, 2020

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

December 20, 2019

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?

November 1, 2019

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

August 2, 2019

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

May 10, 2019

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

January 18, 2019

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…

Stressed to the limit: Uncovering a role for oxidative stress in spinocerebellar ataxia type 7

December 7, 2018

Written by Siddharth Nath Edited by Dr. Ray Truant Oxidative stress is a hot topic in neurodegenerative disease research. New findings from Dr. Jonathan Magaña’s lab in Mexico show increases in measures of damage from oxygen compounds in SCA7 patients versus healthy individuals. This suggests that this type of chemical stress may Read More…

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