From Genetic Mutation to Therapy in Friedreich Ataxia: Molecular Mechanisms, Therapeutic Advances, and Translational Challenges

Abstract excerpt

Friedreich ataxia (FRDA) is a rare, autosomal recessive, progressive neurodegenerative disorder characterized by multisystem involvement, including gait and limb ataxia, cardiomyopathy, skeletal deformities, and metabolic dysfunction. Most patients harbor biallelic GAA trinucleotide repeat expansions in intron 1 of FXN, whereas others are compound heterozygotes with a GAA expansion on one allele and a pathogenic F...

Topics

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• Alleles
• Cell- and Tissue-Based Therapy
• Frataxin
• Friedreich Ataxia
• Genetic Therapy
• Iron-Binding Proteins
• Mutation
• Trinucleotide Repeat Expansion

Identifiers and source

Literature Corpus work

6f50a8ea-a936-5993-a8f9-0950b0effcb2

DOI

10.20944/preprints202604.1108.v1