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L'ataxie de Friedreich: Donnees recentes et perspectives therapeutiques: Friedreich ataxia : Recent developments and prospects for treatment

par Legros, Benjamin ;Manto, M.-U.
Référence Revue médicale de Bruxelles, 20, 2, page (73-79)
Publication Publié, 1999-04

Article révisé par les pairs

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Résumé :

Friedreich's ataxia (FRDA) is the most frequent cause of recessive ataxias. Neurological examination shows oculo-motor ataxia, dysarthria, limbs ataxia, tendon areflexia, pyramidal signs and sensory deficits. Extraneurological involvement consists in osteoarticular deformities, cardiomyopathy and diabetes mellitus. Neurological deficits and osteoarticular deformities both contribute to the gait disorder, which is the main disabling deficit. In 98 % of the cases, a trinucleotide repeat is found in chromosome 9. Gene implicated in FRDA codes for a protein called frataxin. Experimental studies have revealed iron accumulation in mitochondria of neurons and cardiomyocytes, suggesting that frataxin plays a determinant role in intramitochondrial iron homeostasis. These discoveries are now considered as a clue for new strategies of treatment in this hereditary disease.