RESUMEN
Concentrations of the four major brain gangliosides, GM1, GD1a, GD1b and GT1b, biochemical markers of neuronal membranes, were determined in cerebrospinal fluid from a large series of patients with classical Rett syndrome, aged 1.5-21 years at sampling, and from 11 patients with infantile neuronal ceroid lipofuscinosis, aged 1.5-11 years. The results were compared with age-matched healthy controls. Compared with fluid from the control group, the cerebrospinal fluid samples from Rett patients contained significantly reduced levels of gangliosides GD1a and GT1b. In cerebrospinal fluid of the infantile neuronal ceroid lipofuscinosis patients, even the very young ones, all four major brain gangliosides were significantly reduced compared with controls and the concentration levels also differed significantly from those in patients with Rett syndrome. The ganglioside pattern in the brain is reflected in the cerebrospinal fluid early in the course of the disease in Rett syndrome and infantile neuronal ceroid lipofuscinosis.
Asunto(s)
Gangliósidos/líquido cefalorraquídeo , Lipofuscinosis Ceroideas Neuronales/líquido cefalorraquídeo , Síndrome de Rett/líquido cefalorraquídeo , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Diagnóstico Diferencial , Humanos , Lactante , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Síndrome de Rett/diagnósticoRESUMEN
The lipid membrane composition of cerebral tissue from 5 patients with classic Rett syndrome, ages 12-30 years, and from 14 age-matched controls was studied. The results demonstrated a selective loss of myelin-associated lipids and an enrichment of gangliosides in temporal white matter. The ganglioside pattern revealed an increase of astroglial cell-associated gangliosides and reduced proportions of gangliosides GD1a and GT1b. This latter finding may be crucial in synaptic function. The fatty acid compositions of ethanolamine phosphoglyceride, choline phosphoglyceride, and galactosylceramide were normal.