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SCA1

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…

Concevoir une stratégie thérapeutique unique pour traiter plusieurs types d’ataxie spinocérébelleuse

Écrit par Dr David Bushart, Édité par Dr Hayley McLoughlin, Traduction française par: L’Association Alatax, Publication initiale: 3 janvier 2020 Une stratégie de traitement nouvellement proposée pourrait être efficace contre plusieurs formes d’ataxie spinocérébelleuse et d’autres troubles associés aux répétitions CAG. Lors de la réception d’un diagnostic initial d’ataxie spinocérébelleuse 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…

How an ataxia gene increases the risk for Alzheimer’s disease

Written by Dr. Judit M. Perez Ortiz Edited by Dr. Marija Cvetanovic In a tour de force study, a collaborative team of scientists led by Dr. Rudolph Tanzi (Harvard Medical School) and Dr. Huda Zhogbi (Baylor College of Medicine) found a novel relationship between the Spinocerebellar ataxia type 1 gene (ATXN1) 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…

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…

New Strategy for Reducing Ataxin-1 Levels Shows Promise

Written by Carrie A. Sheeler Edited by Dr. Ronald A.M. Buijsen RNAi reduces levels of disease-causing Ataxin-1 in SCA1 model mice, easing symptoms of disease when injected both before and after symptom onset. Lowering the amount of the disease-causing mutant Ataxin-1 protein in affected cells and tissues improves symptoms of 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…

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