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Ü Özgül, M. França

Friedreich's ataxia

Friedreich's ataxia

Schlüsselwörter Friedreich’s ataxia; ICD 10: G11.1 autosomal recessive ataxia
Keywords Friedreich’s ataxia; ICD 10: G11.1 autosomal recessive ataxia
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Friedreich’s ataxia (FRDA) is the most common autosomal recessive ataxia in the Caucasian population characterized by ataxia, predominantly sensory neuropathy, cardiomyopathy, and diabetes mellitus. The incidence in Caucasians has been estimated between 1:29,000 to 1:50,000 in different populations. Men and women are affected equally [1,2]. The primary pathology involves degeneration of the dorsal root ganglia, posterior columns, corticospinal, ventral and lateral spinocerebellar tracts, and the dentate nuclei of the cerebellum. FRDA segregates as an autosomal recessive trait, and patients have mutations in the gene FXN that encodes the protein frataxin. The typical mutation found in 96% of the patients is an abnormal expansion of the trinucleotide GAA (guanine, adenine, adenine trinucleotide) in the first intron. Frataxin is a mitochondrial protein and has a role in iron homeostasis and antioxidation [3]. The mutation leads to reduced levels of frataxin, with subsequent accumulation of iron and impaired electron transport in the respiratory chain in the mitochondria. The resulting impairment in mitochondrial function causes pathology in the peripheral and central nervous system, the heart myocardial fibers and the pancreatic islets of Langerhans [4]. Initial symptoms of FRDA typically occur before the age of 25, and the typical presentation includes varying degrees of ataxia in all four limbs, absent lower extremity reflexes, and pyramidal signs. Most patients have an abnormal electrocardiogram due to hypertrophic cardiomyopathy. Other signs are pes cavus, saccadic intrusions, optic atrophy, deafness, diabetes mellitus or glucose intolerance. Death is usually due to cardiac dysfunction, including arrhythmias or heart failure [1,5].


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