Written by Tala Ortiz Edited by Dr. Larissa Nitschke Repeat-associated non-AUG (RAN) translation in CAG repeat expansion diseases is toxic to cells and causes them to die. The Jain group found that RAN proteins and expanded RNA can be found in the same location in cells and interfere with essential Read More…
If you’ve ever felt shaky when speaking in public or after drinking too much coffee, then you’ve likely experienced tremor. Tremor is an involuntary, rhythmic shaking of parts of the body, such as the hands or the head. Everyone experiences a normal, physiological tremor at a certain level, which is Read More…
Written by Asmer Aliyeva Edited by Dr. Hannah K Shorrock Antisense Oligonucleotide (ASO) treatment improves Purkinje neuron function regulated by potassium channels and highlights altered brain connectivity in movement disruption in SCA3. Understanding which cell types are important for disease onset is vital for therapy development and treatment options for Read More…
Dystonia is a disorder that affects the way a person moves. Specifically, people with dystonia have involuntary muscle contractions, which can cause abnormal twisting postures. Dystonia can affect muscles anywhere in the body, including the face, neck, torso, and limbs. The impact of dystonia can vary greatly across individuals. Some Read More…
Incomplete penetrance is a characteristic of a wide range of genetic diseases, including hereditary forms of neurodegenerative disease, heart disease, and cancer. In short, it means that individuals carrying a disease-causing mutation may not necessarily develop disease symptoms. “Penetrance” refers to the proportion of individuals carrying the disease-causing mutation that Read More…
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…
Augmentative and Alternative Communication (AAC) is an umbrella term that has many meanings. Simply put, AAC is every way we communicate other than speaking. At its core, AAC uses symbols. For a message to be considered AAC, it must be represented symbolically. AAC must stand for something else. A simple Read More…
Dysmetria is a medical term used to describe a condition that affects one’s ability to control and coordinate their movements accurately. In simpler terms, it is like having a glitch in the brain’s “motion control system”. When someone experiences dysmetria, their movements, such as reaching for an object or touching Read More…
Escrito por Dr. Hayley McLoughlin y Dr. Sharan SrinivasanEditado por Dr. Celeste SuartTraducido por Ismael Araujo-Aliaga Una nueva tecnología de secuenciación genética reveló numerosos casos de ataxia familiar asociados a una mutación de un antiguo culpable de la ataxia hereditaria A pesar de los mejorados accesos al diagnóstico genético, la Read More…
Spasticity is a condition where muscles involuntarily stiffen, impeding normal smooth movements. Spasticity can present in varying severities with varying impacts on daily life. For example, minor spasticity resulting in overly stiff muscles can make precise, dextrous tasks difficult, whereas painful, uncontrollable muscle spasms can cause confinement to bed rest. Read More…
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