Genetic marker for the diagnosis of dementia with lewy bodies

Abstract

Specific polymorphisms 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 polymorphisms in butyrylcholinesterase (BChE) gene: the polymorphic site at position 3687 in NCBI Accession Number NG_009031 (i.e. SEQ ID NO: 1 ) the polymorphic site at position 4206 in SEQ ID NO: 1, the polymorphic site at position 4443 in SEQ ID NO: 1. and the polymorphic site at position 68974 in NCBI Accession Number NG_009031 (i.e. position 934 in SEQ ID NO: 26).

Description

[0001] The present invention relates to the field of medicine, and in particular to neurodegenerative diseases. It particularly relates to markers for the diagnosis of dementia with Lewy bodies. Background technique [0002] Lewy body diseases include a group of disorders characterized by the presence of protein neuronal inclusions called Lewy bodies (LB). Clinically, two disorders can be distinguished: Parkinson's disease (PD) and dementia with Lewy bodies (DLB). While PD is the most common progressive movement disorder in the elderly, DLB is the second most common cause of dementia after Alzheimer's disease (AD). Although the ubiquitous distribution of LB in almost every brain region is typical of DLB, the substantia nigra is the most affected in PD. [0003] When DLB was first described, it was considered a rare disease, but careful investigation over the past few years has found it to account for 10% to 15% of autopsy cases. Primary DLB symptoms include fluctuating cogn...

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Problems solved by technology

However, recent studies have shown no significant association 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", Neurobiol. Dis .2009, Vol. 35, pp. 296-301)

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