[Friedreich's ataxia: recent developments and prospects for treatment].
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. Extra-neurological 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.
Legros
B
B
Service de Neurologie, Hôpital Erasme, U.L.B.
Manto
M U
MU
D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005621:Friedreich Ataxia / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy*; D006801:Humans; D018911:Trinucleotide Repeats