Magdalena Kegel,  —

People with Friedreich ataxia have lower than usual levels of cell-free mitochondrial DNA circulating in the bloodstream, but higher levels of nuclear DNA, a finding that might result in new biomarkers to monitor these patients in clinical trials. Research in Friedreich ataxia would benefit from the existence of a non-invasive biomarker of…

Although Friedreich’s ataxia is mainly associated with the degeneration of neurons, a recent report shows that glial satellite cells in the spinal cord are also affected by the frataxin gene mutation. This appears to be a process independent of neuronal cell death, and likely contributes to disease manifestations in Friedreich’s…

Scientists at University College London have, for the first time, described the full sequence of faulty mitochondrial processes in a Friedreich’s ataxia mouse model. Findings show that dysfunctional mitochondria directly contribute to cell death through lipid peroxidation in disease-affected neurons – a degradation of cellular lipids that if prevented,…

The National Ataxia Foundation (NAF) has presented a researcher from Belgium, Simona Donatello, with its Young Investigator Research Award for her work on molecular mTOR pathways affecting frataxin expression in Friedreich’s ataxia, possibly unearthing novel drug targets for the treatment of the disease. Dr. Donatello, with  the Universite Libre de Bruxelles, aims to…

Among the recently distributed National Ataxia Foundation (NAF) research awards, Ricardo Mouro Pinto, Ph.D., from Massachusetts General Hospital Harvard Medical School, received a Young Investigator Award for his work on DNA repair genes that might contribute to the expansion of the GAA repeat mutation in Friedreich’s ataxia. The…

The National Ataxia Foundation (NAF), which supports ataxia research, has given a NAF Research Seed Award to Liliana Simões Mendonça from the University of Coimbra, Portugal, for work on the transplantation of neural stem cells derived from induced pluripotent stem cells in Machado Joseph disease. Also known as spinocerebellar ataxia type…

A study supported by a research grant from the National Ataxia Foundation (NAF) will explore the underlying mutation of the recently described spinocerebellar ataxia, type 41 (SCA41). In addition to producing new insights into spinocerebellar ataxia mechanisms, the study could contribute to improved diagnostics. Only one case with spinocerebellar ataxia and a…

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. In a project focusing on autosomal recessive cerebellar ataxia 2, Pankaj Kumar Singh at the Institut Génétique Biologie Moléculaire Cellulaire, in France, explores how mitochondrial defects contribute to disease mechanisms in…

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. Magda Matos Santana at the Center for Neuroscience and Cell Biology, in Portugal, was among the recipients, recognized for her exploration of advanced models based on induced pluripotent stem cells (iPSC) of Machado-Joseph disease (MJD)…

Percy Tumbale, of the National Institute of Environmental Health Sciences, National Institutes of Health recently received a Young Investigator Research Award from the National Ataxia Foundation (NAF), to cover her ongoing research on aprataxin mutations in ataxia oculomotor apraxia 1 (AOA1). Ataxia generally refers to the muscle coordination loss…