# US 7,745,127 B2 · Molecular diagnostic method for dementia with lewy bodies

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- Number: US 7,745,127 B2
- Document ID: US7745127B2
- Status: Granted
- Kind: B2
- Application number: 11/658,057
- Filed: 2005-07-18
- Published: 2009-01-29
- Granted: 2010-06-29
- Earliest claimed: 2004-07-19
- Assignees: Oryzon Genomics, S.A.
- Inventors: Tamara Maes; Carlos Buesa Arjol; Marta Barrachina Castillo; Isidro Ferrer Abizanda
- Web page: https://patentgrep.com/patent/US7745127B2

## CPC

- C12Q 1/44: involving esterase
- A61P 25/08: Antiepileptics; Anticonvulsants
- A61P 25/28: for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
- A61P 43/00: Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
- C12Q 1/6883: for diseases caused by alterations of genetic material
- G01N 33/573: for enzymes or isoenzymes
- G01N 33/6896: {Neurological disorders, e.g. Alzheimer's disease}
- C12Q 2600/158: Expression markers
- G01N 2800/2814: Dementia; Cognitive disorders
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q)

## Abstract

The present invention describes methods of molecular diagnosis of a concrete form of a-synucleinopathy, the dementia with Lewy bodies (DLB), associated to the levels of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) or the alteration of its ubiquityl-ligase activity. It also refers to the use of compounds that permit the modification of the UCH-L1 levels or of the enzymatic activity of UCH-L1. This invention has application in the diagnosis and treatment of patients suffering from DLB.

## Claims

### Claim 1

A method of diagnosing dementia with Lewy bodies (DLB) in a subject, the method comprising:
obtaining a sample from the subject's frontal cortex; and
analyzing the level of expression of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene in the sample, wherein reduced levels of expression of UCH-L1 gene compared to controls is diagnostic of DLB, as determined by comparing the level of expression of UCH-L1 gene in the sample to UCH-L1 gene expression levels in Alzheimer's Disease (AD) and Parkinson's disease (PD).