Objective: To describe the clinical and neurophysiological spectrum of CNS hyperexcitability in Gluten-Related Disorders.

Background: Gluten-related disorders (GRD) represent a spectrum of diverse manifestations sharing a common trigger, the ingestion of gluten. Sensitivity to gluten has been linked to cortical hyperexcitability with the commonest phenotype being that of myoclonic ataxia. Stiff person syndrome phenotypes have also been linked to gluten sensitivity. Here we attempt to define the spectrum of CNS hyperexcitability in GRD.

Methods: Over the last 20 years we have studied over 770 patients with neurological dysfunction due to GRD (defined by the presence of serological markers of sensitivity to gluten). All patients also underwent gastroscopy and duodenal biopsy to establish the presence of enteropathy before and after the introduction of gluten free diet. Specialized neurophysiological techniques for the assessment of myoclonus and other methods of evaluation of CNS hyperexcitability (i.e. somatosensory evoked potentials, blink reflex excitability studies, assessment of startle responses) allowed for detailed electrophysiological classification of patients clinically suspected of having such a phenotypes.

Results: We have identified a total of 32 patients. 13 patients had the phenotype of myoclonus ataxia with neurophysiological evidence of cortical myoclonus with refractory coeliac disease. At least nine had giant SEPs. Five patients had almost identical phenotype but no enteropathy (2 with giant SEPs). There were 4 patients (3 with enteropathy) who had neurophysiological evidence of exaggerated physiological startle responses and one with abnormal brainstem excitability on blink reflex studies. Ten patients had the typical phenotype of stiff-person syndrome (only 2 with an enteropathy), all positive for anti-GAD. 3 out of 4 patients that underwent blink reflex excitability studies had abnormal findings. All 32 patients had evidence of cerebellar dysfunction on MR spectroscopy.

Conclusions: CNS hyperexcitability is another extraintestinal manifestation of GRD. It manifests with diverse phenotypes involving cortical and subcortical hyperexcitability, ranging from cortical myoclonus and ataxia to exaggerated physiological startle and the stiff person syndrome phenotype. Gluten free diet is a useful therapeutic intervention but in some cases there is a need for immunosuppression.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-spectrum-of-cns-hyperexcitability-in-gluten-related-disorders/