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Walking toward a better understanding of SCA3 progression

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…

¿Ser o no ser SCA27B? Esa es la cuestión: Misteriosos casos de ataxia resueltos gracias a los avances en tecnología genética

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…

Genetic variants in the NPTX1 gene cause cerebellar ataxia

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…

Cientistas desenvolvem uma nova abordagem para avaliar ataxia em casa

Escrito por Ziyang ZhaoEditado por Dr. Hayley McLoughlinTraduzido para o Português por Priscila Pereira Sena Um aplicativo para celulares recentemente desenvolvido permitirá aos pacientes avaliar a ataxia em casa. Há um problema interessante em ciência frequentemente ofuscado pelos cientistas. Não é tão chamativo ou de grande interesse jornalístico como as Read More…

Regional differences in BDNF levels provide new insights into SCA1 pathology

Written by Rana Abdelhalim Edited by Dr. Spyros Petrakis Early BDNF delivery improved cognitive and motor deficits while ameliorating cerebellar pathology in a SCA1 mouse model. Cognitive impairment, slurred speech, difficulty with balance and walking— these are all symptoms of spinocerebellar ataxia type 1 (SCA1). SCA1 is an inherited neurodegenerative Read More…

SCAview: Big Data for Big Questions

Written by Dr. Celeste SuartEdited by Priscila Pereira Sena An international group of researchers developed a new tool for looking at large datasets of spinocerebellar ataxia clinical information. Spinocerebellar ataxias (SCAs) are the most common form of dominantly inherited ataxia worldwide. Since SCAs are rare diseases, it can be hard Read More…

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