The Working Life of People with Degenerative Cerebellar Ataxia

The aim of the present study was to characterize and analyze the most important individual and organizational variables associated with job accommodation in subjects with degenerative cerebellar ataxia by administering a series of international and validated work activity-related scales. Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with...

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Defining the genetic etiology of late onset episodic ataxias

We want to present the research of Martine Tétreault Assistant professor Department of neuroscience, University of Montreal The identification of the genetic causes and mechanisms associated with rare Mendelian diseases has always been an important challenge for the medical field. The identification of mutations and/or genes associated with a disease...

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New developments in pharmacotherapy for Friedreich ataxia article

Current and emerging therapies for Friedrich’s Ataxia (FA) focus on reversing the deleterious effects of such deficiency including mitochondrial augmentation and increasing frataxin levels, providing the possibility of treatment options for this physiologically complex, multisystem disorder. In this review article, the authors discuss the current and prior in vivo and...

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Gene therapy abroad

Neurocrine Biosciences and Voyager Therapeutic announced the formation of a strategic collaboration focused on the development and commercialization of Voyager’s gene therapy programs, VY-AADC for Parkinson’s disease and VY-FXN01 for Friedreich’s ataxia, as well as rights to two programs to be determined. This collaboration combines Neurocrine Biosciences’ expertise in neuroscience,...

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A new Swedish qualitative study on the impact of familial ataxias on persons’ life (June 2017)

The article Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients’ experiments, published in the online journal PLOS ONE, presents the results of a qualitative research on the impact of family ataxias on persons’ life. “The aim of this study was to elucidate and better understand patients´ experiences of living...

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Friedreich’s Ataxia News present a study from University of Bristol in the United Kingdom about a cytokines therapy that could potentially decrease the symptoms of Friedreich’s ataxia (February 2017)

Resume from the Friedreich’s Ataxia News article, Specific Cytokines Therapy Protected Neurons in Humanized Mouse Study “A cocktail of clinically approved cytokines for other diseases shows promising neuro-protective effects in a Friedreich’s ataxia (FA) humanized mouse model. The study, “Cytokine therapy-mediated neuroprotection in a Friedreich’s ataxia mouse model” was published...

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