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Written by Ross Pelzel Edited by Eder Xhako, PhD and Celeste Suart, PhD Alternative splicing produces different versions of proteins that arise from the same gene. In many neurodegenerative diseases, this process results in dysfunctional proteins that lead to disease symptoms. In Shorrock et al., the authors investigate how alternative Read More…
Written by Allison Hilger, PhD, CCC-SLP Edited by Celeste Suart, PhD Did you know cerebellar ataxia affects how speech sounds more than how it’s understood? Learn why speech naturalness matters. Have you ever heard someone speak in a way that sounds a bit unnatural, even if you can understand them Read More…
Written by Katerina Pliatsika Edited by Hannah K Shorrock, PhD Additional proteins which interact with ATXN1 contribute to toxicity in a SCA1 mouse model. In neurodegenerative diseases, a problematic gene and its resulting protein play a crucial role in the selective loss of brain cells. However, a fundamental question remains unanswered: Read More…
Written by: Sophia Salemi, BS Edited by: Celeste Suart, PhD Article highlight: Scientists have discovered that changes in the POU4F1 gene can cause a very rare hereditary ataxia syndrome with first symptoms beginning in childhood. A new patient registry is now open, giving families the opportunity to join a growing community Read More…
Escrito por: Asmer Aliyeva Editado por: Dr. Hannah K Shorrock Traduzido por: Priscila Pereira Sena Tratamento com Oligonucleotídeo Antisenso (ASO, do inglês Antisense Oligonucleotide) melhora a função dos neurônios de Purkinje regulada por canais de potássio, e destaca a conectividade cerebral alterada na interrupção do movimento na SCA3. Entender quais tipos celulares Read More…
Written by Alexandra Putka Edited by Dr. Pragya Goel Feeling tired? You’re not alone. Fatigue is a common symptom of Spinocerebellar ataxias and affects quality of life. Spinocerebellar ataxias (SCAs) are characterized by various symptoms, but fatigue is not often included on this list. Fatigue is clinically defined as difficulty Read More…
Escrito por Asmer Aliyeva Editado por Dr. Hannah K Shorrock Traducido por BS Ismael Araujo-Aliaga El tratamiento con oligonucleótidos antisentido (ASO) mejora la función de las neuronas de Purkinje regulada por canales de potasio y resalta la conectividad cerebral alterada en el trastorno del movimiento en SCA3. Comprender qué tipos de células Read More…
Escrito por Ziyang Zhao Editador por la Dra. Hayley McLoughlin Traducido por Ismael Araujo Aliaga Una aplicación para teléfonos inteligentes recientemente desarrollada permitirá a los pacientes evaluar la ataxia en casa. Existe un problema interesante en la ciencia que a menudo queda eclipsado en la comunidad científica. No es tan llamativo ni Read More…
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…
