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Clinical Research

Preparação para testes em SCA1 and SCA3 com exames de imagem

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…

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…

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…

Getting ready for trials in SCA1 and SCA3 with imaging

Written by Dr. Gülin ÖzEdited by Dr. Celeste Suart Advanced Magnetic Resonance Imaging (MRI) detects brain changes before ataxia symptoms. The list of pharmaceutical companies that turned their attention to ataxias has been steadily increasing over the last decade. This is in large part thanks to exciting developments in gene Read More…

Um esforço contínuo em direção ao tratamento da SCA3

Escrito por Dr. Jorge Diogo Da Silva Editado por Dr. David Bushart Traduzido para o português por Priscila Pereira Sena Como um grupo de pesquisa avaliou se a Rivastigmina, uma droga usada no tratamento da doença de Parkinson, pode exercer um papel no tratamento da SCA3 Ataxia Espinocerebelar do tipo Read More…

Spinocerebellar Ataxia Type 8: Lifetime risk and repeat interruptions

Written by Dr. Hannah K ShorrockEdited by Dr. Larissa Nitschke Differences in the lifetime risk of developing SCA8 are associated with the presence of interruptions in the ATXN8 repeat expansion. In most spinocerebellar ataxias caused by repeat expansions, everyone who carries a repeat expansion above a certain threshold will develop Read More…

¿Qué es la Escala Internacional Cooperativa de la Ataxia?

Escrito por Cristina (Yi) Peng Editado por la Dra. Hayley McLoughlin Traducción: Dra. Frida Loria La Escala Internacional Cooperativa de la Ataxia (del inglés International Cooperative Ataxia Rating Scale, ICARS) es una escala que se utiliza para evaluar el grado de discapacidad en pacientes con ataxia cerebelosa. Fue desarrollada en Read More…

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