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Written by Kaitlyn Neuman Edited by Celeste Suart, PhD Lessons from a global pandemic: COVID-19 negatively impacts speech function and mental health in SCA2 patients. A short time ago, in a country far, far away… a mysterious pneumonia-like illness transcended upon its people. Outbreaks of a novel coronavirus associated with severe Read More…
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 this article, researchers studied whether an online, group speech therapy program was helpful for people with ataxia. The study tested the hypothesis that Read More…
Escrito por Dr. Celeste Suart Editado por Priscila Pereira Sena Traducido por Ismael Araujo Aliaga Un grupo internacional de investigadores desarrolló una novedosa herramienta para visualizar grandes bases de datos de información clínica de ataxias espinocerebelosas. Las ataxias espinocerebelosas (SCAs) son la forma más común de ataxias de herencia dominante a nivel Read More…
Written by Christina PengEdited by Larissa Nitschke, PhD Ever since the CAG expansion of the Ataxin-1 (ATXN1) gene has been identified as the cause of spinocerebellar ataxia type 1 (SCA1), researchers have been on the hunt for the mechanism of the disease. How does this mutation cause SCA1? So far, Read More…
Written by Marija Cvetanovic, PhDEdited by Spyros Petrakis, PhD Researchers from Yale provide evidence that glial cells, in particular Bergmann glia in the cerebellum, may contribute to disease pathogenesis in SCA1. The human brain contains approximately 170 billion cells. However, approximately half of them (86 billion cells) are not neurons. Read More…
Escrito por Dr. Hannah K Shorrock Editado por Dr. Celeste Suart Traducid por Ismael Araujo Aliaga La acumulación de daño en el ADN sin ser reparado provocaría una cascada de efectos negativos en SCA7, resultando en la desaparición y muerte a nivel neuronal. ¿Por qué las neuronas en el cerebelo se degeneran Read More…
Written by Celeste Suart, PhDEdited by Eder Xhako 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. Starting a family is a big decision. There are a lot of things to consider Read More…
Written by Alexandra Putka Edited by Dr Hannah K Shorrock Scientists characterize SCA1, 2, 3, & 6 disease progression, finding that symptoms change most rapidly in the first 10 years of the disease. Designing clinical trials for rare diseases such as spinocerebellar ataxias (SCAs) requires us to know the timeline Read More…
Escrito por la Dra. Hannah K ShorrockEditado por la Dra. Larissa Nitschke Las diferencias en el riesgo de por vida en desarrollar la SCA8 están asociados con la presencia de interrupciones en la expansión de repeticiones de ATXN8 En la mayoría de ataxias espinocerebelosas causadas por expansiones de repeticiones, todo Read More…
Written by Jacqueline Ambur Gragg Edited by Celeste Suart, PhD Research from the University of Washington shows differences in how ataxia can impact the muscles you use for speaking. Communication is a vital part of the human experience. Many ataxians also struggle with slurred and unclear speech known as dysarthria. Read More…
