Thelansis

 Friedreich ataxia, a rare hereditary condition, initiates its course during childhood and results in a gradual nervous system deterioration, along with motor function impairments. Approximately 25% of individuals affected by Friedreich ataxia experience an unconventional variant where symptoms manifest after age 25. This disorder predominantly affects European, Middle Eastern, or North African individuals and is infrequently observed in other ethnic populations. The primary genetic cause of Friedreich ataxia typically stems from a recessive inheritance pattern attributed to an expansion mutation of GAA repeats located within the first intron of the FXN gene. This mutation leads to a significant reduction in the production of the frataxin protein. Consequently, the absence of frataxin within cells results in diminished activity of mitochondrial iron-sulfur cluster-containing enzymes, iron accumulation in the mitochondrial matrix, heightened susceptibility to oxidative stress, and i...

  Friedreich ataxia is a rare inherited disease that causes progressive nervous system damage and movement issues. It usually starts in childhood and progresses to poor muscle coordination (Ataxia) that worsens over time. About 25% of people with Friedreich ataxia have an atypical form in which signs and symptoms begin after age 25. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups. Genetically, in most cases, it is a recessively inherited disorder caused by an expansion mutation of GAA repeats in the first intron within the FXN gene, leading to a largely reduced expression of the frataxin protein. Deficiency of frataxin in cells leads to decreased activities of the mitochondrial iron-sulfur cluster–containing enzymes, accumulation of iron in the mitochondrial matrix, increased sensitivity to oxidative stress, and impaired adenosine triphosphate (ATP) production. The incidence of Friedreich...