" /> Friedreich ataxia - CISMeF





Preferred Label : Friedreich ataxia;

Symbol : FRDA;

CISMeF acronym : FA; FARR; FRDA; FRDA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FRDA1; FA; Friedreich ataxia 1;

Included titles and symbols : Friedreich ataxia with retained reflexes; FARR;

Description : Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring in about 1 in 50,000 individuals. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy (review by Delatycki et al., 2000). Pandolfo (2008) provided an overview of Friedreich ataxia, including pathogenesis, mutation mechanisms, and genotype/phenotype correlation. - Genetic Heterogeneity of Friedreich Ataxia Another locus for Friedreich ataxia has been mapped to chromosome 9p (FRDA2; 601992).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation or trinucleotide repeat expansion (GAA)n in the frataxin gene (FXN, 606829.0001);

Laboratory abnormalities : Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem; Abnormal EKG; Abnormal echocardiogram; Low pyruvate carboxylase activity in liver and cultured fibroblasts; Decreased mitochondrial malic enzyme;

Prefixed ID : #229300;

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03/05/2025


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