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- Title
COMT Val<sup>158</sup>Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1.
- Authors
de Souza Costa, Danielle; de Paula, Jonas J.; Alvim-Soares Jr., Antonio M.; Pereira, Patrícia A.; Malloy-Diniz, Leandro F.; Rodrigues, Luiz O. C.; Romano-Silva, Marco A.; de Miranda, Débora M.; Dong-Hoon Lee; Dawei Li
- Abstract
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-O-methyltransferase (COMT) Val158Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the COMT 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.
- Subjects
NEUROFIBROMATOSIS; COGNITION disorders; PHENOTYPES; GENETIC polymorphisms; PATIENTS
- Publication
Frontiers in Human Neuroscience, 2016, p1
- ISSN
1662-5161
- Publication type
Article
- DOI
10.3389/fnhum.2016.00334