Rett syndrome and aging Academic Article uri icon

abstract

  • Rett syndrome (RS) is a neurological disease characterized by an arrest of brain development caused by an X chromosome mutation affecting mainly females. Rett syndrome is the first human disease found to be caused by defects in a protein involved in regulating gene expression through its interaction with methylated DNA. The disease has been traced to a defective gene called MECP2 on the X chromosome. This review of aging with RS revealed very few studies, but the published case stories showed that females with RS can live even to age 79 years, but larger studies are needed to bring more light into the natural and long-term consequences of this syndrome.

publication date

  • January 1, 2006