學術產出-期刊論文
| 題名 | Psychomotor dysfunction in Rett syndrome: insights into the neurochemical and circuit roots |
| 作者 | 廖文霖 Liao, Wenlin |
| 貢獻者 | 神科所 |
| 日期 | 2019-01 |
| 上傳時間 | 12-十二月-2018 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 |
| 資料類型 | 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 | 12-十二月-2018 16:43:48 (UTC+8) | - |
| dc.date.available | 12-十二月-2018 16:43:48 (UTC+8) | - |
| dc.date.issued (上傳時間) | 12-十二月-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 | - |