SCAsource
@SCAsource
News and information about Spinocerebellar Ataxia research. Written by scientists in plain language that everyone can understand.
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Mutations in the RFC1 gene cause CANVAS, Cerebellar Ataxia (CA), Neuropathy (N) and Vestibular Areflexia (VA) Syndrome (S). It is also known as RFC1-ataxia. ataxia.org/scasourceposts…
Additional proteins that interact with ATXN1 contribute to toxicity in a SCA1 mouse model. ataxia.org/scasourceposts…
Scientists have discovered that changes in the POU4F1 gene can cause a very rare hereditary childhood ataxia. A new patient registry is now open, allowing families to join a growing community and help researchers better understand this condition. ataxia.org/scasourceposts…
The Brief Ataxia Rating Scale is a clinical tool that assesses ataxia symptom severity. It is simplified to be more efficient to use in clinical and research settings. ataxia.org/scasourceposts…
La distonía es un trastorno que afecta a la forma en que una persona se mueve. Específicamente, las personas con distonía tienen contracciones musculares involuntarias, que pueden causar posturas de torsión anormales. ataxia.org/scasourceposts…
BDNF is a key protein that helps the brain’s neurons grow, connect, and survive. Low levels are linked to multiple neurodegenerative disorders. Researchers are exploring ways to boost BDNF that could open new doors for treating neurodegeneration. ataxia.org/scasourceposts…
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…
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…
ataxia.org
Online Speech Therapy program helps improve speech in ataxia - National Ataxia Foundation
Written by Caroline Spencer, PhD Edited by Celeste Suart, PhD ClearSpeechTogether is a virtual group-based speech therapy program for people with speech problems due to progressive ataxia. In...
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…
ataxia.org
Snapshot: What is a De Novo Mutation? - National Ataxia Foundation
For healthy function, our body performs many essential cellular processes mediated by the molecules created within us. This construction is based on a molecule called DNA, which acts as an Read...
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…
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