title: Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
abstract: In the present study we evaluated long term memory in twenty individuals with molecularly confirmed diagnosis of Noonan syndrome and LEOPARD syndrome, two disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. The profile of explicit long term memory abilities was investigated using PROMEA, which includes a battery of tests specifically developed to assess memory and learning in verbal, visual and spatial domains. Ten individuals (50%) had impaired (≤5th percentile) or below average (≤15th percentile) performance on a delayed verbal free recall memory task, four (20%) on a delayed visual recognition memory task, and only one (5%) on a delayed spatial recognition memory task. Our data suggest that dysregulation of the RAS-MAPK cascade may be associated with a pattern of reduced verbal recall memory performance but relative sparing of visual and spatial recognition memory.
authors.affiliation: Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy. alfpao@libero.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Alfieri
authors.forename: Laura
authors.initials: L
authors.lastname: Cesarini
authors.forename: Maria
authors.initials: M
authors.lastname: Mallardi
authors.forename: Giorgia
authors.initials: G
authors.lastname: Piccini
authors.forename: Cristina
authors.initials: C
authors.lastname: Caciolo
authors.forename: Chiara
authors.initials: C
authors.lastname: Leoni
authors.forename: Nadia
authors.initials: N
authors.lastname: Mirante
authors.forename: Francesca
authors.initials: F
authors.lastname: Pantaleoni
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Maria Luigia
authors.initials: ML
authors.lastname: Gambardella
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.forename: Stefano
authors.initials: S
authors.lastname: Vicari
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D044542:LEOPARD Syndrome / Q000175:diagnosis / Q000235:genetics*; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics*; D020935:MAP Kinase Signaling System / Q000235:genetics*; D008297:Male; D008569:Memory Disorders / Q000175:diagnosis / Q000235:genetics*; D057567:Memory, Long-Term; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics*; D009483:Neuropsychological Tests; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D018631:ras Proteins / Q000235:genetics*
chemical_list: D020928:Mitogen-Activated Protein Kinases; D018631:ras Proteins