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Written by Alexandra Putka Edited by Dr. Hayley S. McLoughlin Walking measurements detect changes in SCA3 severity across a 1-year study and represent an important biomarker of disease progression Medical doctors use a number of tools to assess a patient’s health: a thermometer and blood pressure monitor, for example. These Read More…
Escrito por el Dr. Hannah K. Shorrock Editado por el Dr. Vitaliy V. Bondar La medición de los niveles de las proteínas de poliQ ATXN3 en el líquido cefalorraquídeo y plasma distingue a pacientes SCA3 de los individuos no afectados Para que los medicamentos o terapias modificadores de una enfermedad Read More…
The inferior olive is a beautifully squiggly structure found in the brainstem. The brainstem connects the spinal cord to the brain and contains three major regions: the midbrain, pons, and medulla. Within the medulla, there is an inferior olivary nucleus, or inferior olive, on each side. These inferior olives are Read More…
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…
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