Neurofibromatosis type 1: new insights into neurocognitive issues

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder with a prevalence of approximately 1 in 3500 people. Academic difficulties and school failure are the most common reported complication of NF1 in childhood and are present in 40% to 60% of the cases. They are often the most significant cause of lifetime morbidity in this population. Recent advances in the recognition and characterization of the cognitive phenotype in NF1 patients have provided a better understanding of the neuropsychologic deficits that account for the impairments in cognitive performance and social interaction. Additionally, recent advances in the understanding of molecular and cellular mechanisms underlying the cognitive deficits in NF1, as well as developments in neuroimaging and molecular genetic techniques are starting to yield a global and integrative picture of the molecular, cellular, and brain system processes affected by this condition. This review focuses on these advances, as well as recent preclinical studies that point towards potential pharmacologic interventions for NF1 patients.