Rett症候群臨床徴候と遺伝子異常の相関序論

• 瀬川 昌也

  瀬川小児神経学クリニック

• 松石 豊次郎

  久留米大学医学部小児科

書誌事項

タイトル別名

• Rett Syndrome: Correlation of Clinical Symptoms and the Mutations in the Gene of Methyl CPG Binding Protein 2 (MeCP2): Introductory Remarks

抄録

Pathophysiology of Rett syndrome is discussed in relation to the MeCP2 gene. The brainstem aminergic neurons are affected in early infancy, resulting in failure in locomotion, head growth and language. The severity of symptoms is related to the specific loci of a mutation on the methylbinding domain which shows correlation with the degree of heterochronation disturbance. The secondary involvement of dopamine neurons together with dysfunction of cholinergic neurons, causes stereotyped movements and regression. In the normal fetus brain MeCP2 is expressed diffusely, and subsequently disappears early in the cortex and later in the brainstem. Abnormalities in the MeCP2 gene may alter these processes and cause age-dependent symptoms.

収録刊行物

• 脳と発達

  脳と発達 34 (3), 197-199, 2002

  THE JAPANESE SOCIETY OF CHILD NEUROLOGY

キーワード

• Rett症候群
• 病態
• MeCP2遺伝子異常
• 臨床症状と遺伝子異常の相関

詳細情報

• CRID: 1390282679530954240
• NII論文ID: 10008591433
• NII論文ID: 130004183531
• NII書誌ID: AN0020232X
• DOI: 10.11251/ojjscn1969.34.197
• ISSN: 18847668
• ISSN: 00290831
• PubMed: 12030006
• データソース種別:
  • JaLC
  • PubMed
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可