AUTHOR=Costa Danielle de Souza , de Paula Jonas J. , Alvim-Soares Antonio M. , Pereira Patrícia A. , Malloy-Diniz Leandro F. , Rodrigues Luiz O. C. , Romano-Silva Marco A. , Miranda Débora M. de 

TITLE=COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1

JOURNAL=Frontiers in Human Neuroscience

VOLUME=10

YEAR=2016

URL=https://www.frontiersin.org/journals/human-neuroscience/articles/10.3389/fnhum.2016.00334

DOI=10.3389/fnhum.2016.00334

ISSN=1662-5161

ABSTRACT=<p>Neurofibromatosis type I (NF1) is a neurogenetic disease marked by multiple cognitive and learning problems. Genetic variants may account for phenotypic variance in NF1. Here, we investigated the association between the catechol-<italic>O</italic>-methyltransferase (<italic>COMT</italic>) Val<sup>158</sup>Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the <italic>COMT</italic> polymorphism was observed only with verbal working memory, as measured by the backward digit-span task with an advantageous performance for Met/Met carriers. To study how genetic modifiers influence NF1 cognitive performance might be of importance to decrease the unpredictability of the cognitive profile among NF1 patients.</p>