Rett Syndrome: Coming to Terms with Treatment

Table 6

Rett Syndrome (therapeutic options).

MeCP2 restoration
Missense mutations: reactivate full-length protein
Nonsense (stop) mutations: promote full-length protein; may require “reactivation”
Deletions/insertions: more complicated
Symptomatic therapy
Serotonin reuptake inhibitors: ameliorate anxiety
NMDA receptor blocker: memantine reverse glutamate hyperexcitability
IGF-1: full length and tri-peptide downstream effect in BDNF cascade
BDNF-mimetics: TrkB agonists restore BDNF levels
Read-through compounds: stop mutations produce full length MeCP2
Gene therapy
Gene correction correct only abnormal allele
Stem cell transplant
X chromosome activation of normal allele activate normal allele in all cells