Friedreich’s ataxia. Case report

Abstract

Friedreich’s ataxia (FA), an autosomal recessive neurodegenerative disease, is the greatest common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition has led to rapid advances in Friedreich`s ataxia understanding of the pathogenesis. Nearly 98% of the mutant alleles have an expansion of the GAA trinucleotide repeat in the intron of 1 of the gene. It leads to the reduced levels of the protein, and called frataxin. Friedreich ataxia is the result of the accumulation of iron in the mitochondria leading and to excess of the creation of free radicals, which formerly leads to the cellular damage and death. This chapter outlines genetics, the most conjoint clinical features of this disease: gait and limb ataxia, poor balance and coordination, sensory loss, leg weakness, impaired walking, areflexia, dysarthria, eye movement abnormalities, dysphagia, scoliosis, foot deformities, cardiomyopathy and diabetes. At present day there is no known treatment that changes the natural progression of this disease.