Myoclonus ataxia and refractory coeliac disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

Ptolemaios G Sarrigiannis, Nigel Hoggard, Daniel Aeschlimann, David S Sanders, Richard A Grünewald, Zoe C Unwin, Marios Hadjivassiliou

ABSTRACT

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. 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. All patients adhered to a strict gluten-free diet with elimination of gluten-related antibodies in most. 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. More... »

PAGES

11

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/2053-8871-1-11

DOI

http://dx.doi.org/10.1186/2053-8871-1-11

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010244213

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26331035


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