Refractory coeliac disease associated with late onset epilepsy, ataxia, tremor and progressive myoclonus with giant cortical evoked potentials—A case report and review of literature

Javed, Saqib; Safdar, Asimah; Forster, A.; Selvan, Arul; Chadwick, David; Nicholson, Andy; Jacob, Anu

doi:10.1016/j.seizure.2012.04.003

Cited by 13 publications

(8 citation statements)

References 20 publications

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“…Lu and colleagues published a case series of patients with ataxia and myoclonus providing for the first time electrophysiological evidence for the cortical origin of the myoclonus [ 48 ]. These findings were further confirmed later in many cases and case series [ 49 , 50 , 51 , 52 , 53 ]. The largest case series was published by Sarrigiannis et al, and included nine patients with CD, myoclonus of cortical origin and ataxia.…”

Section: Resultssupporting

confidence: 54%

Movement Disorders Related to Gluten Sensitivity: A Systematic Review

et al. 2018

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Gluten related disorders (GRD) represent a wide spectrum of clinical manifestations that are triggered by the ingestion of gluten. Coeliac disease (CD) or gluten sensitive enteropathy is the most widely recognised, but extra-intestinal manifestations have also been increasingly identified and reported. Such manifestations may exist in the absence of enteropathy. Gluten sensitivity (GS) is another term that has been used to include all GRD, including those where there is serological positivity for GS related antibodies in the absence of an enteropathy. Gluten ataxia (GA) is the commonest extraintestinal neurological manifestation and it has been the subject of many publications. Other movement disorders (MDs) have also been reported in the context of GS. The aim of this review was to assess the current available medical literature concerning MDs and GS with and without enteropathy. A systematic search was performed while using PubMed database. A total of 48 articles met the inclusion criteria and were included in the present review. This review highlights that the phenomenology of gluten related MDs is broader than GA and demonstrates that gluten-free diet (GFD) is beneficial in a great percentage of such cases.

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Section: Resultssupporting

confidence: 54%

Movement Disorders Related to Gluten Sensitivity: A Systematic Review

et al. 2018

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“…CD-associated epilepsy has also been reported in association with other neurological signs, such as ataxia, tremor, and progressive myoclonus (Javed et al, 2012 ; Sarrigiannis et al, 2014 ). In these cases, epilepsy was usually refractory, and EEG demonstrated spike and waves in the right anterior and mid-temporal lobes, as well as bilateral slow and sharp waves.…”

Section: Neurophysiological Techniques Used To Probe Cns Involvement mentioning

confidence: 99%

“…In these cases, epilepsy was usually refractory, and EEG demonstrated spike and waves in the right anterior and mid-temporal lobes, as well as bilateral slow and sharp waves. Some of these spike waves were present in association with localized jerks of the upper or lower limb, although without periodic complexes (Javed et al, 2012 ; Sarrigiannis et al, 2014 ). Finally, the fixation-off sensitivity phenomenon could be observed (Casciato et al, 2015 ).…”

Section: Neurophysiological Techniques Used To Probe Cns Involvement mentioning

confidence: 99%

Neurophysiology of the “Celiac Brain”: Disentangling Gut-Brain Connections

et al. 2017

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Celiac disease (CD) can be considered a complex multi-organ disorder with highly variable extra-intestinal, including neurological, involvement. Cerebellar ataxia, peripheral neuropathy, seizures, headache, cognitive impairment, and neuropsychiatric diseases are complications frequently reported. These manifestations may be present at the onset of the typical disease or become clinically evident during its course. However, CD subjects with subclinical neurological involvement have also been described, as well as patients with clear central and/or peripheral nervous system and intestinal histopathological disease features in the absence of typical CD manifestations. Based on these considerations, a sensitive and specific diagnostic method that is able to detect early disease process, progression, and complications is desirable. In this context, neurophysiological techniques play a crucial role in the non-invasive assessment of central nervous system (CNS) excitability and conductivity. Moreover, some of these tools are known for their valuable role in early diagnosis and follow-up of several neurological diseases or systemic disorders, such as CD with nervous system involvement, even at the subclinical level. This review provides an up-to-date summary of the neurophysiological basis of CD using electroencephalography (EEG), multimodal evoked potentials, and transcranial magnetic stimulation (TMS). The evidence examined here seems to converge on an overall profile of “hyperexcitable celiac brain,” which partially recovers after institution of a gluten-free diet (GFD). The main translational correlate is that in case of subclinical neurological involvement or overt unexplained symptoms, neurophysiology could contribute to the diagnosis, assessment, and monitoring of a potentially underlying CD.

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“…CD was diagnosed in all four, preceding the onset of the neurological manifestations by years. Further individual case reports [ 9 , 10 ] appeared at a later stage but no large series.…”

Section: Introductionmentioning

confidence: 99%

Myoclonus ataxia and refractory coeliac disease

et al. 2014

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BackgroundCortical 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.ResultsAll 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.ConclusionsThis 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.Electronic supplementary materialThe online version of this article (doi:10.1186/2053-8871-1-11) contains supplementary material, which is available to authorized users.

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Refractory coeliac disease associated with late onset epilepsy, ataxia, tremor and progressive myoclonus with giant cortical evoked potentials—A case report and review of literature

Cited by 13 publications

References 20 publications

Movement Disorders Related to Gluten Sensitivity: A Systematic Review

Movement Disorders Related to Gluten Sensitivity: A Systematic Review

Neurophysiology of the “Celiac Brain”: Disentangling Gut-Brain Connections

Myoclonus ataxia and refractory coeliac disease

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