Genetic marker for the diagnosis of dementia with lewy bodies

Abstract

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.

Description

[0001] The present invention relates to the field of medicine, and in particular to neurodegenerative diseases. The invention specifically relates to markers for the diagnosis of dementia with Lewy bodies. Background technique [0002] Lewy body diseases comprise a group of disorders characterized by the presence of proteinaceous neuronal inclusions called Lewy bodies (LB). Clinically, a distinction can be made between Parkinson's disease (PD) and dementia with Lewy bodies (DLB). PD is the most common progressive movement disorder in the elderly, while DLB is the second most common cause of dementia after Alzheimer's disease (AD). While the widespread distribution of LB within virtually every brain region is typical of DLB, the substantia nigra is most affected in PD. [0003] When DLB was first described, it was considered a rare condition, but over the past few years, extensive studies have shown that DLB accounts for 10-15% of autopsy cases. Major DLB symptoms include fl...

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However, recent studies have shown no significant correlation between the BChE K variant and the DLB phenotype of dementia (see W. Maetzler et al., "No differences of butyrylcholinesterase protein activity and allele frequency in Lewy body diseases (in Lewy body diseases) Butyrylcholinesterase protein activity and allele frequency did not differ in somatic diseases)” Neurobiol. Dis. 2009, Volume 35, Pages 296-301)

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