NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
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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…
Written by Juan MatoEdited by Hayley McLoughlin, PhD German research team uses specialized imaging technology to measure neuropathy in SCA3 patients. The Unexplored Depths of Peripheral Neuropathy in SCA3 Spinocerebellar Ataxia Type 3 (SCA3) is an inherited neurodegenerative disease that affects balance, coordination, speech, and overall mobility. However, did you Read More…
Written by Kaitlyn Neuman Edited by Sarah Donofrio Lessons learned from Friedreich’s Ataxia patients and families: Gene therapy, trial participation, and managing expectations. What is Friedreich’s Ataxia? Friedreich’s Ataxia (FA) is a rare genetic childhood condition with a variety of symptoms, including trouble with balance, coordination, and a progressive loss Read More…
Escrito por Dr. Hannah K Shorrock Editado por Dr. Celeste Suart Traduzido para o Português por Priscila Pereira Sena A acumulação de danos ao DNA sem a capacidade de reparo pode levar a uma cascata de efeitos negativos na SCA7, resultando na morte neuronal. Por que os neurônios do cerebelo Read More…
Escrito por Dr. Gülin ÖzEditado por Dr. Celeste SuartTraduzido por Ana Carolina Martins A ressonância magnética (RM) detecta alterações cerebrais antes dos sintomas de ataxia. A lista de empresas farmacêuticas que direcionaram a sua atenção para as ataxias tem aumentado ao longo da última década. Isto se deve ao promissor Read More…
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…
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…
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…
