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…
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. 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…
Written by Paige Blair Edited by Larissa Nitschke & Celeste Suart What are adeno-associated viruses? Adeno-associated viruses, also known as AAV, are a type of virus that infects humans without causing a serious disease response. These viruses possess the unique ability to deliver DNA to specific cells in living organisms. 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…
Written by Dr. Ronald BuijsenEdited by Celeste Suart The Late Breaking Session presented data on new insights into FA disease mechanisms and positive results in an FA omaveloxolone clinical trial, a novel SCA5 screening platform to identify new drug targets & the discovery of a novel gene causing SCA50. During Read More…
Written by Dr. Amy Smith-Dijak, with notes from Dr. Jorge Diogo Da Silva and Celeste SuartEdited by Hayley McLoughlin From debates about studying therapies, to training with an important clinical tool, to clinical trials hot off the presses, Thursday afternoon at ICAR was all about doing our best to treat Read More…
Written by Dr. Jorge Diogo Da Silva, with notes from Sarah Donofrio and Celeste SuartEdited by Hayley McLoughlin From drugs and gene therapy, to electrical current and exercise programs: how researchers are becoming more innovative in the search for new treatments, in the lab models to test them, and in Read More…
Written by Dr. Hannah Shorrock, with notes from Dr. Amy Smith-Dijak and Celeste SuartEdited by Celeste Suart Understanding non-motor functions and factors that govern vulnerability in the cerebellum will help to inform preclinical therapy development, from CRISPR to small molecules, and provides important considerations for imaging studies. Together, these research Read More…
Written by Sarah Donofrio, with notes from Dr. Hayley McLoughlinEdited by Hayley McLoughlin On Wednesday morning, ICAR attendees heard talks covering a range of topics, all focused on research about the mechanisms and biomarkers of ataxia. Wednesday morning began with the Disease Mechanisms Plenary. The session was kicked off by Read More…
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