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    题名: Psychomotor dysfunction in Rett syndrome: insights into the neurochemical and circuit roots
    作者: 廖文霖
    Liao, Wenlin
    贡献者: 神科所
    日期: 2019-01
    上传时间: 2018-12-12 16:43:48 (UTC+8)
    摘要: 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.
    關聯: Developmental Neurobiology, Vol.79, No.1, pp.51-59
    数据类型: article
    DOI 連結: https://doi.org/10.1002/dneu.22651
    DOI: 10.1002/dneu.22651
    显示于类别:[神經科學研究所 ] 期刊論文

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