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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…
Escrito por Dr. Hayley McLoughlin y Dr. Sharan SrinivasanEditado por Dr. Celeste SuartTraducido por Ismael Araujo-Aliaga Una nueva tecnología de secuenciación genética reveló numerosos casos de ataxia familiar asociados a una mutación de un antiguo culpable de la ataxia hereditaria A pesar de los mejorados accesos al diagnóstico genético, la Read More…
Escrito por Dr Hannah ShorrockEditado por Larissa NitschkeTraducido por Ismael Araujo-Aliaga Interrupciones en las repeticiones en SCA10 influyen en la estabilidad del tramo repetido y están asociadas con ataques epilépticos Múltiples ataxias espinocerebelosas (SCAs) son causadas por mutaciones de expansión de repeticiones, pero en algunos casos, estas expansiones se encuentran Read More…
Written by Dr. Hannah K Shorrock Edited by Dr. Celeste Suart Three genetic variants in the NPTX1 gene have been linked to cerebellar ataxia, providing a genetic diagnosis for seven families. Receiving a genetic diagnosis can be incredibly valuable: not only for patients who can access support groups and interact Read More…
