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National Ataxia Foundation

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SCA7

Measuring neurodegeneration in spinocerebellar ataxias

Written by Dr Hannah K Shorrock Edited by Dr. Maria do Carmo Costa Neurofilament light chain predicts cerebellar atrophy across multiple types of spinocerebellar ataxia A team led by Alexandra Durr at the Paris Brain Institute identified that the levels of neurofilament light chain (NfL) protein are higher in SCA1, Read More…

Snapshot: What is Riluzole?

Riluzole, often sold under the trade name Rilutek, is a medication used for the treatment of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease that mainly affects neurons controlling muscle movements. The drug was approved by the FDA (1995), Health Canada (1997), and the European Commission (1996). It Read More…

Spotlight: The Truant Lab

Principal Investigator: Dr. Ray Truant Location: McMaster University, Hamilton, Ontario, Canada Year Founded: 1999 What disease areas do you research? SCA1 SCA7 Huntington’s Disease Parkinson’s Disease What models and techniques do you use? Human cell biology High content screening Biophotonics Microscopy Research Focus What is your research about? We are Read More…

Finding New Off-Balance Protein Networks in SCA7

Written by Frida Niss Edited by Dr. Siddharth Nath Can neurodegeneration in SCA7 in part be due to faulty calcium homeostasis in the cerebellum? Polyglutamine diseases are caused by an increase in the length of CAG repeats within a specific gene. The mutation for spinocerebellar ataxia type 7 (SCA7) was Read More…

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…

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…

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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