Electroclinical features and phenotypic differences in Adenylosuccinate lyase deficiency: long term follow-up of seven patients from four families and appraisal of the literature.

ADSL deficiency presents variable phenotypic expression which severity could be partially attributed to residual activity of the mutant protein and although a precise phenotype-genotype correlation was not yet feasible, we delineated a common pattern of clinical, neuroradiological and neurophysiological features.