Early-onset cerebellar ataxia due to novel mutations in ACO2 (P2.224)

CONCLUSIONS: Defect in mitochondrial aconitase was associated with an infantile neurodegenerative disorder affecting cerebellum and retina. We report one case of aconitase deficiency with milder phenotype confined to cerebellum, thus suggesting that aconitase mutation must be considered in differential diagnosis of childhood-onset cerebellar ataxias, even when retinal involvement is not present.Disclosure: Dr. Barca has nothing to disclose. Dr. Neil has nothing to disclose. Dr. Naini has nothing to disclose. Dr. De Vivo has received personal compensation for activities with Isis Pharmaceuticals as a consultant. Dr. DiMauro has received personal compensation in an editorial capacity for MedLink Neurology.

Source: Neurology - April 8, 2015 Category: Neurology Authors: Barca, E., Neil, H., Naini, A., De Vivo, D., DiMauro, S. Tags: Child Neurology and Developmental Neurology: Genetics Source Type: research