Neurofibromatosis Type I Learning Disabilities

作者: C. Shilyansky , B.J. Wiltgen , A.J. Silva

DOI: 10.1016/B978-012370509-9.00019-X

关键词: Ras Signaling PathwayNeurofibromin 1NeurofibromatosisNeuroscienceDevelopmental MilestoneNeurofibromatosis type ILearning disabilityPsychologyMutationHippocampus

摘要: Learning disabilities are caused by genetic mutations and environmental factors that alter the normal physiology of brain. The resulting symptoms broad include delayed achievement developmental milestones, underachievement in academic social settings, behavioral problems. This chapter focuses on neurofibromatosis type 1 (NF1), a disorder Nf1 gene accompanied specific learning disabilities. encodes negative regulator ras signaling pathway, which participates multiple aspects neuronal function. Mutation mouse causes ras-dependent increase inhibition, reduces plasticity hippocampus, impairs memory. Through combination clinical, genetic, cellular, investigations, we have begun to understand NF1 develop novel interventions treat its symptoms.

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