Premium
Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots
Author(s) -
Liao Wenlin
Publication year - 2019
Publication title -
developmental neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.716
H-Index - 129
eISSN - 1932-846X
pISSN - 1932-8451
DOI - 10.1002/dneu.22651
Subject(s) - rett syndrome , psychomotor learning , neurochemical , neuroscience , neurodevelopmental disorder , biology , psychomotor disorder , intellectual disability , pathological , psychology , autism , psychiatry , medicine , cognition , genetics , gene
Rett syndrome ( RTT ) is a monogenic neurodevelopmental disorder caused by mutations in the methyl‐CpG binding protein 2 ( MECP 2 ) 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 Me CP 2 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 .