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| Title | Psychomotor dysfunction in Rett syndrome: insights into the neurochemical and circuit roots |
| Creator | 廖文霖 Liao, Wenlin |
| Contributor | 神科所 |
| Date | 2019-01 |
| Date Issued | 12-Dec-2018 16:43:48 (UTC+8) |
| Summary | 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. |
| Relation | Developmental Neurobiology, Vol.79, No.1, pp.51-59 |
| Type | article |
| DOI | https://doi.org/10.1002/dneu.22651 |
| dc.contributor | 神科所 | - |
| dc.creator (作者) | 廖文霖 | zh_TW |
| dc.creator (作者) | Liao, Wenlin | en_US |
| dc.date (日期) | 2019-01 | - |
| dc.date.accessioned | 12-Dec-2018 16:43:48 (UTC+8) | - |
| dc.date.available | 12-Dec-2018 16:43:48 (UTC+8) | - |
| dc.date.issued (上傳時間) | 12-Dec-2018 16:43:48 (UTC+8) | - |
| dc.identifier.uri (URI) | http://nccur.lib.nccu.edu.tw/handle/140.119/121373 | - |
| dc.description.abstract (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. | en_US |
| dc.format.extent | 330908 bytes | - |
| dc.format.mimetype | application/pdf | - |
| dc.relation (關聯) | Developmental Neurobiology, Vol.79, No.1, pp.51-59 | - |
| dc.title (題名) | Psychomotor dysfunction in Rett syndrome: insights into the neurochemical and circuit roots | en_US |
| dc.type (資料類型) | article | - |
| dc.identifier.doi (DOI) | 10.1002/dneu.22651 | - |
| dc.doi.uri (DOI) | https://doi.org/10.1002/dneu.22651 | - |