Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms

Andrei I. Molosh, Anantha Shekhar

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Neurofibromatosis type 1 (NF1) is monogenic neurodevelopmental disorder caused by mutation of NF1 gene, which leads to increased susceptibility to various tumors formations. Additionally, majority of patients with NF1 are experience high incidence of cognitive deficits. Particularly, we review the growing number of reports demonstrated a higher incidence of autism spectrum disorder (ASD) in individuals with NF1. In this review we also discuss face validity of preclinical Nf1 mouse models. Then we describe discoveries from these animal models that have uncovered the deficiencies in the regulation of Ras and other intracellular pathways as critical mechanisms underlying the Nf1 cognitive problems. We also summarize and interpret recent preclinical and clinical studies that point toward potential pharmacological therapies for NF1 patients.

Original languageEnglish (US)
JournalProgress in Brain Research
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Neurofibromatosis 1
Neurofibromatosis 1 Genes
Critical Pathways
Incidence
Reproducibility of Results
Animal Models
Autism Spectrum Disorder
Pharmacology
Mutation
Neoplasms

Keywords

  • Autism spectrum disorders
  • Behavior
  • Cognition
  • Mouse models
  • Neurofibromatosis type 1
  • PAK inhibitors

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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abstract = "Neurofibromatosis type 1 (NF1) is monogenic neurodevelopmental disorder caused by mutation of NF1 gene, which leads to increased susceptibility to various tumors formations. Additionally, majority of patients with NF1 are experience high incidence of cognitive deficits. Particularly, we review the growing number of reports demonstrated a higher incidence of autism spectrum disorder (ASD) in individuals with NF1. In this review we also discuss face validity of preclinical Nf1 mouse models. Then we describe discoveries from these animal models that have uncovered the deficiencies in the regulation of Ras and other intracellular pathways as critical mechanisms underlying the Nf1 cognitive problems. We also summarize and interpret recent preclinical and clinical studies that point toward potential pharmacological therapies for NF1 patients.",
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