Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots

Rett syndrome (RTT) is a monogenic neurodevelopmental disorder caused by mutations in the methyl‐CpG binding protein 2 (MECP2) gene. Patients with RTT develop symptoms after 6–18 months of age, exhibiting characteristic movement deficits, such as ambulatory difficulties and loss of hand skills, in addition to breathing abnormalities and intellectual disability. Given the striking psychomotor dysfunction, numerous studies have investigated the underlying neurochemical and circuit mechanisms from different aspects. Here, I review the evidence linking MeCP2 deficiency to alterations in neurotransmission and neural circuits that govern the psychomotor function and discuss a recently identified pathological origin underlying the psychomotor deficits in RTT.

• Publication year

  2018

• Venue

  Developmental Neurobiology

• Publication date

  2018-11-28

• Fields of study

  Biology, Medicine, Psychology

• Identifiers
  DOI 10.1002/dneu.22651PMID 30430747
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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