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…
Written By Dr. Hannah K ShorrockEdited by Dr. Celeste Suart Accumulating DNA damage without being able to repair it may lead to a cascade of negative effects in SCA7, resulting in neuronal demise and death. Why do neurons in the cerebellum degenerate in spinocerebellar ataxia type 7? If scientists can 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…
Written by Alexandra Putka Edited by Dr. Larissa Nitschke Profound gene changes in non-neuronal cells are revealed by a recent study in SCA1. The two major cell types of the brain are neurons and glia, yet you have probably heard little about glia, which outnumber neurons. The word glia comes Read More…
Escrito por Dr Hannah K Shorrock Editado por Dr Larissa Nitschke Traduzido por Ana Carolina Martins Composto modificadores de “splicing” podem regular se a terapia gênica está ou não ativa A terapia gênica é uma estratégia terapêutica incrivelmente versátil que pode ser usada para tratar doenças monogênicas. A terapia gênica Read More…
Written by Alexandra Putka Edited by Dr. Hannah K Shorrock Improving neuron firing regularity rescued incoordination but not muscle weakness in a SCA1 mouse model. Spinocerebellar ataxias are characterized by problems within the cerebellum, the part of your brain responsible for balance, coordination, and walking. A central question within preclinical Read More…
Escrito por Kaitlyn Neuman Editado por Dra. Chandana Kondapalli Traduzido para o português por Priscila Pereira Sena Induzir a morte celular ou degradar mitocôndrias adoecidas – essa é a questão: um novo papel da ataxina-3 como mediadora dessa decisão. Você já ouviu alguém dizer: “Eu posso parecer não estar fazendo Read More…
Written by Dr. Hayley McLoughlin and Dr. Sharan Srinivasan Edited by Dr. Celeste Suart A novel genetic sequencing technology uncovered numerous familial ataxia cases linked to a unique mutation in an old genetic ataxia culprit. Despite improved access to genetic testing, the ability to diagnose hereditary ataxias remains quite difficult. Read More…
Written by Dr. Ambika Tewari Edited by Dr. Larissa Nitschke The abnormal activity of cells in the deep cerebellar nuclei and Purkinje cells correlate with the early onset of motor symptoms in a mouse model of SCA3 The cerebellum has an established role in maintaining balance and posture and coordinating Read More…
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