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Snapshot: What is the Cerebellum?

The cerebellum, often referred to as the “little brain”, is part of the brain that is located behind the cerebrum (forebrain). The cerebellum accounts for about 10% of the brain’s volume. Despite occupying a small volume, the cerebellum contains more than half of the neurons in the brain. Most of 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…

Snapshot: What are Mouse Models?

If you are thinking of a dressed-up mouse walking on a ramp and posing for pictures, then you are thinking wrong! Mouse models – as the name indicates – serve as a “model” for human diseases. Mice, similar to many mammals, can develop diseases. These include cancers, diabetes, and cardiovascular Read More…

Snapshot: What are Clinical Trials?

How does a medical drug get to patients? Research is being done every day to discover new or better ways to treat diseases and various medical conditions. In order to determine if these treatments will help patients, studies known as “clinical trials” need to be done before these methods of 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…

Snapshot: What is an antisense oligonucleotide (ASO/AON)?

Antisense Oligonucleotides (also known as ASOs or AONs) are small molecules that can be used to prevent or alter the production of proteins. Proteins are the workforce of the cell, taking care of most cellular processes. They are generally made in a two-step process: first, a specific protein-coding gene is Read More…

A Combined Approach to Treatment: Targeting PAKs in SCA1

Written by Carrie A. Sheeler  Edited by Dr. Marija Cvetanovic Group 1 p21-associated kinases (PAKs) present a new avenue for SCA1 research. Spinocerebellar ataxia type 1 (SCA1) is caused by a specific mutation in the Ataxin1 gene, which causes the protein that’s made from that gene (also called Ataxin1) to 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…

Snapshot: What is Polyglutamine Expansion?

The information that allows the normal development and functioning of each human being is coded in DNA, which exists in all cells of the body. Several successive segments of DNA make up a gene, with the human body containing approximately 20,000. Every gene has a different arrangement of DNA segments Read More…

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