METODO DI DIAGNOSTICA RAPIDA PER LA SINDROME DI RETT

The present invention concerns a new, quick and easy method for diagnosis of Rett syndrome. We identify an altered autophagy path in Rett patients. Results of this altered path is the presence, in red blood cells harvested from patients, of mitochondria (both intact and partially degraded), their proteins or membrane fragments, ribosomes (both intact and partially degraded), their proteins or fragments, proteasomes, (both intact and partially degraded) and their proteins or fragments. Results of this altered path is 1) the presence, fibroblast harvested from patients, of mitochondria (both intact and partially degraded), their proteins or membrane fragments, ribosomes (both intact and partially degraded), their proteins or fragments, proteasomes, (both intact and partially degraded) and their proteins or fragments and 2) down regulation of genes involved in autophagy path such as but not limited to LC3B-II. In particular, the present invention relates to any molecule, including but not limited to antibodies, substrates, nucleic acids, able to detect on RBC and other cell types the results of an alterate autophagy in Rett syndrome.