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  4. Transglutaminase 6 autoantibodies: a novel diagnostic marker for neurological manifestations of gluten sensitivity

Transglutaminase 6 autoantibodies: a novel diagnostic marker for neurological manifestations of gluten sensitivity

Principal investigator: Professor Daniel Aeschlimann

Institution: Matrix Biology & Tissue Repair Research Unit, Cardiff University

Research classification: Detection, screening and diagnosis

Project start & duration: 1 May 2009 (48 months)

Grant awarded: £143k

A newly developed biomarker will be measured in the blood of patients with gluten sensitivity who present with ataxia, neuropathy (damage to nerve endings) and other neurological symptoms but typically no gastrointestinal symptoms. It is hoped that in the future clinicians will be able to use this test on patients at presentation to make an accurate diagnosis, allowing patients, who need it, to start a gluten-free diet sooner and therefore avoid further complications.

Unlike those patients with inflammation of the gut, patients with neurological problems will suffer from irreversible damage to the neural tissue because of the inability of this tissue to regenerate. The earlier the diagnosis the more likely the treatment will be effective.

The presence of this biomarker will also be assessed in patients presenting with typical gut symptoms of coeliac disease and for those with a positive antibody test (IgA tissue transglutaminase), to identify if any potential susceptibility to neurological dysfunction exists.

The test will be optimised and there will also be a search for additional biomarkers which the body may produce concurrently.

The current tests for coeliac disease are specific for patients presenting with the classical gastrointestinal symptoms but are not accurate in identifying those patients that present with neurological symptoms. As a result patients with neurological symptoms are not diagnosed early enough or not at all.

Associated publications: Hadjivassiliou, M., Aeschelimann, P., Sanders, D.S., et al. (2013) Transglutaminase 6 antibodies in the diagnosis of gluten ataxia. Neurology 80; 1-6

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