Discovered a genetic biomarker that detects Lewy body dementia

July 26, 2013, Universitat Autonoma de Barcelona

The Germans Trias i Pujol Health Sciences Research Institute (IGTP) and the Universitat Autònoma de Barcelona (UAB) have discovered the first genetic biomarker to detect Lewy body dementia (LBD), a disease that can be confused with Alzheimer's. This biomarker is found in 20% of cases and differentiates one of the sub-groups of the pathology. Licensed to the Grifols company, it will lead to more precise diagnosis and treatment.

Lewy body dementia (LBD) is the second cause of after Alzheimer's disease. The symptoms of both diseases are very similar, since in both cases there is a gradual deterioration in mental capacity, affecting memory, thought processes, behaviour and physical activity. These similarities mean that some patients with LBD are wrongly diagnosed and treated with the usual drugs for Alzheimer's. But this treatment causes adverse reactions in approximately half of these patients, making the disease much worse in some cases.

Currently there is no specific test to diagnose LBD. In practice, various neurological and are used to detect the disease and its possible overlap with other disorders, but of LBD is not very accurate.

The research, conducted by the IGTP and the UAB, has led to the discovery of the first genetic , found in 20% of LBD cases, and differentiating between one sub-group of LBD and Alzheimer's disease. "Although this marker only detects a certain number of LBD sufferers, it significantly increases diagnostic sensitivity to the disease and these patients can get an accurate diagnosis and therefore the right treatment", explains Dr Katrin Beyer, head of the research project and belonging to the Group of Structural and Molecular Pathology, Department of Pathology at the Germans Trias Hospital and Institute.

The researchers first detected the marker through a study of post mortem brain samples, in which they observed an alteration in the expression of the enzyme butyrylcholinesterase (BCHE) in the brains of patients with LBD. These data indicated that there could be genetic alterations in the BCHE gene promoter, causing changes in the expression of the gene. In fact, they found four polymorphisms in the LBD promoter region that, in certain combinations, are associated with LBD. These findings, which have been patented, make it possible to determine if a patient has LBD, distinguishing it from Alzheimer's .

Currently, the patent is in its last stage of validation, which is being carried out in collaboration with neurologists from the Neurodegenerative Disease Unit of the Germans Trias Hospital and Bellvitge Hospital.

The licensing agreement with the Grifols company means the results can be applied, thus providing a simple, rapid, and effective procedure for diagnosing LBD in hospitals. Moreover, the marker can also be used to design clinical studies to help identify groups of patients with a more accurate diagnosis, removing, for example, LBD cases from a group of Alzheimer's patients.

Grifols is a global company that for over 70 years has been providing therapeutic treatments with plasmatic proteins, technology for clinical diagnosis and pharmaceutical products for hospital use. It is now the third worldwide producer of biological drugs derived from plasma, is present in over 100 countries and is a world leader in plasma supplies, with 150 blood donation centres in the United States.

Explore further: Dementia, sleeping problems and depression are interrelated

Related Stories

Dementia, sleeping problems and depression are interrelated

February 23, 2012
People with dementia suffer more from sleep disorders and depression than other people. The highest incidence is found among patients with Lewy body dementia (LBD).

New subtype of ataxia identified

April 29, 2013
Researchers from the Germans Trias i Pujol Health Sciences Research Institute Foundation (IGTP), the Bellvitge Biomedical Research Institute (IDIBELL), and the Sant Joan de Déu de Martorell Hospital, has identified a new ...

Acting out dreams linked to development of dementia, study finds

March 21, 2013
The strongest predictor of whether a man is developing dementia with Lewy bodies—the second most common form of dementia in the elderly—is whether he acts out his dreams while sleeping, Mayo Clinic researchers have discovered. ...

Biomarkers in cerebrospinal fluid can identify patients with Alzheimer's disease

October 22, 2012
Analysis of specific biomarkers in a cerebrospinal fluid sample can differentiate patients with Alzheimer's disease from those with other types of dementia. The method, which is being studied by researchers at Sahlgrenska ...

Scientists spot early signs of Alzheimer's disease

July 9, 2013
Early signs of Alzheimer's disease can be detected years before diagnosis, according to researchers at Birmingham City University.

Mayo study seeks to pretreat Alzheimer's in effort to prevent brain damage

July 16, 2013
The day is coming when doctors will be able to diagnose and treat Alzheimer's disease before people have symptoms, and Ronald Petersen is among the doctors laying the groundwork for that future.

Recommended for you

Pregnancy history may be tied to Alzheimer's disease

July 18, 2018
A woman's history of pregnancy may affect her risk of Alzheimer's disease decades later, according to a study published in the July 18, 2018, online issue of Neurology, the medical journal of the American Academy of Neurology. ...

Molecular tracer, seen with PET scan, shows concentrations of abnormal proteins

July 17, 2018
In a small study of military personnel who had suffered head trauma and had reported memory and mood problems, UCLA researchers found brain changes similar to those seen in retired football players with suspected chronic ...

Yale-developed test for Alzheimer's disease directly measures synaptic loss

July 16, 2018
Yale researchers have tested a new method for directly measuring synaptic loss in individuals with Alzheimer's disease. The method, which uses PET imaging technology to scan for a specific protein in the brain linked to synapses, ...

New study highlights Alzheimer's herpes link, experts say

July 12, 2018
A new commentary by scientists at the Universities of Manchester and Edinburgh on a study by Taiwanese epidemiologists supports the viability of a potential way to reduce the risk of Alzheimer's disease.

Practice imperfect—repeated cognitive testing can obscure early signs of dementia

July 12, 2018
Alzheimer's disease (AD) is a progressive, neurodegenerative condition that often begins with mild cognitive impairment or MCI, making early and repeated assessments of cognitive change crucial to diagnosis and treatment.

The 'Big Bang' of Alzheimer's: Scientists ID genesis of disease, focus efforts on shape-shifting tau

July 10, 2018
Scientists have discovered a "Big Bang" of Alzheimer's disease – the precise point at which a healthy protein becomes toxic but has not yet formed deadly tangles in the brain.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.