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Cardiac Pathology Explored in Friedreich’s Ataxia Patients

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…

Functional MRI Used to Study of Neuropathology of Spinocerebellar Ataxia Type 7

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.

SCA3 Studied in C. Elegans with Grant from NAF

Joining Friedreich’s Ataxia in the list of ataxias is spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease. This disease is caused by mutations in the gene encoding protein ataxin-3 (ATXN3), unlike Friedreich’s ataxia, which is caused by a mutation in the gene encoding frataxin protein (FXN). Similar…