Metodo in vitro para el diagnostico de la demencia con cuerpos de lewy (lbd), que comprende determinar en una muestra biológica de un individuo el genotipo de las siguientes alteraciones en el gen de la butirilcolinesterasa o de polimorfismos en desequilibrio de union de los mismos; kit para llevar a cabo dicho método; uso del kit para el diagnóstico de lbd.

摘要

Specific alterations in BChE gene have been found which allow determining whether a patient suffers from dementia with Lewy bodies (DLB), and allow distinguishing it from Alzheimer's disease. The invention provides an in vitro method for the diagnosis of DLB comprising determining in a biological sample from a subject, the genotype of the following alterations in butyrylcholinesterase (BChE) gene: the polymorphic sites at position 68974 in NCBI Accession Number NG_009031 (i.e. position 934 in SEQ ID NO: 28), and the polymorphic sites 3687, 4206, 4443, and the poly-thymine region at positions 4780 to 4786, said positions with reference to NCBI Accession Number NG_009031 (i.e. positions 3687, 4206 and 4443 respectively in SEQ ID NO: 1), which corresponds to the nucleotide sequence of human BChE gene.