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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…
Escrito por el Dr. Hannah K. Shorrock Editado por el Dr. Vitaliy V. Bondar La medición de los niveles de las proteínas de poliQ ATXN3 en el líquido cefalorraquídeo y plasma distingue a pacientes SCA3 de los individuos no afectados Para que los medicamentos o terapias modificadores de una enfermedad Read More…
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…
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…
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…
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…
In a nutshell: somatic expansions are expansions of repeat DNA sequences that accumulate in cells over an individual’s lifetime. A special kind of mutation: repeat expansion mutations Some genes naturally contain repeat sequences in the DNA. For the most part, these DNA repeats are relatively short and do not cause Read More…
Written by Dr. Jorge Diogo Da Silva Edited by Dr. David Bushart How one research group assessed whether Rivastigmine, a Parkinson’s Disease drug, might have a role in treating SCA3 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is the most common inherited ataxia worldwide. As with Read More…
Escrito por Carrie SheelerEditado por Dr. Hayley McLoughlin e traduzido para o português por Priscila Pereira Sena Pesquisadores usam ressonância magnética (RM) para determinar se o volume cerebral pode ser um marcador biológico para SCA3 Existem dois objetivos na pesquisa pré-clínica. Primeiro, entender a causa de uma doença. Segundo, desenvolver Read More…
Written by Dr Hannah K Shorrock Edited by Dr Vitaliy V Bondar Measuring levels of polyQ ATXN3 proteins in cerebrospinal fluid and plasma distinguishes SCA3 patients from unaffected individuals For disease-modifying medicines or therapies to be approved for use in the clinic, the treatments must demonstrate success at meeting pre-set Read More…
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