SCAsource @SCAsource
News and information about Spinocerebellar Ataxia research. Written by scientists in plain language that everyone can understand. ataxia.org/SCAsource Ontario, Canada Joined April 2018-
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CACNA1A is a gene mainly expressed in the brain. Mutations in CACNA1A have been associated with multiple disorders, including Spinocerebellar ataxia type 6 (SCA6) and Episodic ataxia type 2 (EA2). ataxia.org/scasourceposts…
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La comunicación es un derecho humano básico. La pérdida o diferencia en el habla verbal no debe excluir a nadie de ser un comunicador eficaz. La CAA puede ser el gran ecualizador de la comunicación al aumentar tanto la expresión como la comprensión. ataxia.org/scasourceposts…
Feeling tired? You’re not alone. Fatigue is a common symptom of Spinocerebellar ataxias and affects quality of life. ataxia.org/scasourceposts… #ataxia
Electromyography, or EMG, is a technique for measuring the electrical activity of skeletal muscles—the muscles that connect to bones and support movement. ataxia.org/scasourceposts…
Una aplicación para teléfonos inteligentes recientemente desarrollada permitirá a los pacientes evaluar la ataxia en casa. ataxia.org/scasourceposts…
Lessons from a global pandemic: COVID-19 negatively impacts speech function and mental health in SCA2 patients. ataxia.org/scasourceposts…
People with neuropathy have “misfiring” of the nerves that carry signals from the central nervous system to other parts of the body, called peripheral nerve cells. This “misfiring” causes pain and loss of sensation. ataxia.org/scasourceposts…
ClearSpeechTogether is a virtual group-based speech therapy program for people with speech problems due to progressive ataxia. ataxia.org/scasourceposts…
A "de novo" mutation is a genetic mutation that appears for the first time in someone, not having been present in previous generations of their family. ataxia.org/scasourceposts…
Myoclonus is a neurological clinical sign marked by sudden, quick, and involuntary muscle contractions or jerks. These contractions can happen in one muscle group or in several muscle groups at the same time. ataxia.org/scasourceposts…
Un grupo internacional de investigadores desarrolló una novedosa herramienta para visualizar grandes bases de datos de información clínica de ataxias espinocerebelosas. ataxia.org/scasourceposts…
Alternative splicing is a process where sections of genes called "exons" are connected together in different combinations. This leads to proteins being made that are related, but have distinct structures and functions. ataxia.org/scasourceposts…
Areflexia is a condition characterized by the absence or reduction of reflexes. Some types of ataxia have different kinds of areflexia symptoms. ataxia.org/scasourceposts…
Researchers from Yale provide evidence that glial cells, in particular Bergmann glia in the cerebellum, may contribute to disease pathogenesis in SCA1. #ataxia ataxia.org/scasourceposts…
The pyramidal tract is responsible for voluntary movements made by our body. It connects the cerebral cortex to the spinal cord. Damage to anywhere along the pyramidal tract can cause a variety of issues, also known as pyramidal signs. ataxia.org/scasourceposts…
A survey conducted by French researchers examines how people impacted by Spinocerebellar Ataxia view different reproductive health options and sharing information with family members about genetic conditions. ataxia.org/scasourceposts…
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