Rett syndrome is a devastating central nervous system (CNS) developmental disorder, which is caused in the majority of cases by mutation of the X-linked epigenetic factor methyl-CpG-binding protein (MeCP) 2. The disease, which affects primarily girls, features severe neurological sequelae, including seizures, stereotypies, impaired breathing, mental retardation, and locomotor deficits. A majority of patients also develop somatic symptoms including intestinal pathology, impaired growth, and osteopenia. Rett syndrome was long thought to be a disease solely involving neuronal dysfunction. However, we recently showed a prominent role for the immune cells, microglia, in the pathophysiology of the disease. In this chapter, we give a broad overview of Rett syndrome, and recent findings in microglial biology as they relate to CNS development and pathology. We further focus on microglia, the tissue-resident macrophages of the brain, as possible therapeutic targets in the amelioration of Rett syndrome.

Original languageEnglish
Title of host publicationNeuroinflammation
Subtitle of host publicationNew Insights into Beneficial and Detrimental Functions
Number of pages13
ISBN (Electronic)9781118732748
ISBN (Print)9781118732823
StatePublished - Mar 6 2015


  • Anti-inflammatory
  • Bone marrow transplantation
  • Cytokines
  • Glia
  • Microglia
  • Neurodevelopment
  • Neuroimmune
  • Phagocytosis
  • Proinflammatory
  • Rett syndrome
  • Tissue resident macrophage


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