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Myoclonus ataxia and refractory coeliac disease

Sarrigiannis, Ptolemaios G., Hoggard, Nigel, Aeschlimann, Daniel, Sanders, David S., Grünewald, Richard A., Unwin, Zoe C. and Hadjivassiliou, Marios 2014. Myoclonus ataxia and refractory coeliac disease. Cerebellum & Atxias 1 (11) 10.1186/2053-8871-1-11

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Background Cortical myoclonus with ataxia has only rarely been reported in association with Coeliac Disease (CD). Such reports also suggested that it is unresponsive to gluten-free diet. We present detailed electro-clinical characteristics of a new syndrome of progressive cortical hyperexcitability with ataxia and refractory CD. Methods At our gluten/neurology clinic we have assessed and regularly follow up over 600 patients with neurological manifestations due to gluten sensitivity. We have identified 9 patients with this syndrome. Results All 9 patients (6 male, 3 female) experienced asymmetrical irregular myoclonus involving one or more limbs and sometimes face. This was often stimulus sensitive and became more widespread over time. Three patients had a history of Jacksonian march and five had at least one secondarily generalised seizure. Electrophysiology showed evidence of cortical myoclonus. Three had a phenotype of epilepsia partialis continua at onset. There was clinical, imaging and/or pathological evidence of cerebellar involvement in all cases. Eight patients adhered to a strict gluten-free diet with elimination of gluten-related antibodies. However, there was still evidence of enteropathy in all, suggestive of refractory celiac disease. Two died from enteropathy-associated lymphoma and one from status epilepticus. Five patients were treated with mycophenolate and one in addition with rituximab and IV immunoglobulins. Their ataxia and enteropathy improved but myoclonus remained the most disabling feature of their illness. Conclusions This syndrome may well be the commonest neurological manifestation of refractory CD. The clinical involvement, apart from ataxia, covers the whole clinical spectrum of cortical myoclonus.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Dentistry
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: BioMed Central
Funders: Coeliac UK, Bardhan Research and Education Trust of Rotherham
Date of First Compliant Deposit: 28 February 2019
Date of Acceptance: 20 June 2014
Last Modified: 28 Feb 2019 16:05

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