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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…

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…

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.