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

• Segawa Masaya

  Segawa Veurological Clinic for Children

• Matsuishi Toyojiro

  Department of Pediatrics and Child Health, Kurume University School of Medicine

Bibliographic Information

Other Title

• Rett症候群臨床徴候と遺伝子異常の相関序論

Abstract

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.

Journal

• NO TO HATATSU

  NO TO HATATSU 34 (3), 197-199, 2002

  THE JAPANESE SOCIETY OF CHILD NEUROLOGY

Keywords

• 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

Details

• CRID: 1390282679530954240
• NII Article ID: 10008591433
• NII Article ID: 130004183531
• NII Book ID: AN0020232X
• DOI: 10.11251/ojjscn1969.34.197
• ISSN: 18847668
• ISSN: 00290831
• PubMed: 12030006
• Data Source:
  • JaLC
  • PubMed
  • CiNii Articles
• Abstract License Flag: Disallowed