The vast majority of patients with Friedreich’s ataxia develop symptoms in the first or second decade of life, enabling an early diagnosis and early medical attention to alleviate symptoms of the disease. However, a small number of patients develop late-onset Friedreich’s ataxia (LOFA) between the ages of 25 and…
News
Although German physician Nikolaus Friedreich first recognized Friedreich’s ataxia in 1863, it was not until 1996 that two scientific teams discovered the underlying cause of the disease: a mutation in the gene for frataxin protein. Since that time, researchers have identified two types of mutations that cause Friedreich’s ataxia…
A recent study published in the journal PLoS ONE characterized the association of the neurodegenerative disorder Friedreich’s ataxia with cardiac pathology. The study is entitled “The Pathogenesis of Cardiomyopathy in Friedreich Ataxia.” Friedreich’s ataxia corresponds to a rare inherited disease characterized by progressive…
The National Ataxia Foundation (NAF) recently awarded funding for 23 promising ataxia research projects. The project led by Dr. Padmaja Vittal from Rush University Medical Center in Chicago received the “Clinical Research Training Fellowship in Ataxia Award” that helps fund the training of the next…
The National Ataxia Foundation (NAF) recently awarded funding for 23 promising ataxia research projects. One of the projects is led by Dr. Ismael Al-Ramahi from Baylor College of Medicine in Houston, Texas and has received a “Pioneer SCA Translational Grant Award.”…
A post-doctoral fellowship award has been given to Carlos Roberto Hernandez-Castillo, Ph.D. of Universidad Nacional Autonoma de Mexica, Coyoacan, Mexico to study the neuropathology of spinocerebellar ataxia type 7 using functional magnetic resonance imaging (fMRI). Spinocerebellar ataxia type 7 (SCA7) is an extremely rare genetic disorder that affects a brain area known as the cerebellum, which controls coordination.
The National Ataxia Foundation (NAF), an organization dedicated to improving the lives of those affected by ataxia through support, education, and research, recently released a list of study proposals awarded funding for 2015. One of the awarded proposals, written by a post-doctoral candidate, Dr. Yu Miyazaki, M.D., Ph.D.
The National Ataxia Foundation (NAF) announced in December 2014 the funding of 23 important ataxia research projects in the United States, Mexico, Belgium, Portugal, United Kingdom and Germany. One of the projects awarded within the United States is led by Dr. Jeremy D. Schmahmann from …
At Baylor College of Medicine in Houston, Texas, researchers are developing a genetic toolkit to help study ataxia. Marife Arancillo, PhD, was awarded a Post-Doc Fellowship Award for her work in “Neural Mechanisms of Cerebellar Function in Ataxia.” As part of this…
As the most prevalent form of ataxia, Friedreich’s ataxia represents a major focus for research in the field of understanding disease mechanisms. Rising to the demand is researcher Simona Donatello, PhD at Universite Libre de Bruxelles in Brussels, Begium. Dr. Donatello was recognized by the National Ataxia Foundation…
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