Abstract

Neurofibromatosis type 1 (NF1) is one of the most common human genetic disease affecting the nervous system. In addition to a range of typical physical features, it has long been recognized an increased risk of cognitive and behavioral impairments in individuals with NF1. However, the nature of such impairments has been only recently investigated in an extensive way. In this work we report and discuss the results of the main studies examining neuropsychological functioning in NF1 patients and we address the question of the possible neuropathological bases of their cognitive deficits.