The nervous system is made up of two main components: the central nervous system, which consists of the brain and the spinal cord, and the peripheral nervous system, which consists of nerve cells that branch off the spinal cord and connect the central nervous system to the rest of the Read More…
In a nutshell: somatic expansions are expansions of repeat DNA sequences that accumulate in cells over an individual’s lifetime. A special kind of mutation: repeat expansion mutations Some genes naturally contain repeat sequences in the DNA. For the most part, these DNA repeats are relatively short and do not cause Read More…
Escrito por Carrie SheelerEditado por Dr. Hayley McLoughlin e traduzido para o português por Priscila Pereira Sena Pesquisadores usam ressonância magnética (RM) para determinar se o volume cerebral pode ser um marcador biológico para SCA3 Existem dois objetivos na pesquisa pré-clínica. Primeiro, entender a causa de uma doença. Segundo, desenvolver Read More…
Brainstem – the part that connects and acts as a communicator between our brain and our spinal cord. The brainstem itself is composed of midbrain, pons, and medulla oblangata. Even minor injuries or disruptions to this neural communication and this region can have devastating consequences. The pons is a horseshoe-shaped Read More…
Written by Dr Hannah K Shorrock Edited by Dr Vitaliy V Bondar Measuring levels of polyQ ATXN3 proteins in cerebrospinal fluid and plasma distinguishes SCA3 patients from unaffected individuals For disease-modifying medicines or therapies to be approved for use in the clinic, the treatments must demonstrate success at meeting pre-set Read More…
Written by Carrie Sheeler Edited by Dr. Hayley McLoughlin Researchers use Magnetic Resonance Imaging (MRI) to determine if brain volume can be a biomarker for SCA3 There are two goals of preclinical research. First, to understand the cause of a disease. Second, to develop treatments to stop or slow its Read More…
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…
Public transit may not be the first thing that comes to mind when we think about the brain, but it’s a great way to understand how all the parts of the central nervous system work together. Nutrients, hormones, and other important molecules (the passengers) need to get on and off Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Larissa Nitschke Expanded CAG repeats are the cause of Huntington’s disease (HD) and several spinocerebellar ataxias (SCAs). Longer inherited CAG expansions correlate with the earlier disease onset and worse symptoms. We know from past research that these expansions are unstable and become longer Read More…
Nerve cells (aka neurons) are unique cells in that they have long, and thin extensions called axons which form connections with and talk to other neurons. This particular shape of neurons determines how quickly they can get their messages to other cells. You can think of the axons in the Read More…
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