Original Article Low Levels of Nerve Growth Factor in Cerebrospinal Fluid of Children With Rett Syndrome

A role for neurotrophic factors has been postulated in some human neurodegenerative disorders such as Alzheimer’s and Parkinson’s diseases. The known developmental effects of these substances suggested that, in some neurologic diseases affecting children, neurotrophic factors might be inadequate. Using a sensitive, two-site enzyme-linked immunoassay, we examined the content of nerve growth factor in the cerebrospinal fluid of 11 children with Rett syndrome and of 24 con-trol patients with various neurologic diagnoses or suffering from other diseases. Nerve growth factor levels were significantly lower in the cerebrospinal fluid of the patients with Rett syndrome than in control patients. The lower level of cerebrospinal fluid nerve growth factor in Rett syndrome suggests that lack of nerve growth factor may be involved in the pathogenesis of this disease or reflect the underlying brain damage present. (J Child Neurol 1996;11:296-300). Rett syndrome, a devastating disease of girls with unknown etiology, was first described by Andreas Rett in 19661 but received further attention only in the 1980s.1 At ages vary-ing between 6 and 18 months, normal development of the child is arrested and regression ensues. The patient then loses her acquired skills, especially use of the hands and lan