PROGRESSIVE MYOCLONIC ATAXIA ASSOCIATED WITH CELIAC-DISEASE - THE MYOCLONUS IS OF CORTICAL ORIGIN, BUT THE PATHOLOGY IS IN THE CEREBELLUM

We report four patients with a progressive myoclonic ataxic syndrome a nd associated coeliac disease. The onset of the neurological syndrome followed the gastrointestinal and other manifestations of coeliac dise ase while on a gluten-free diet, in the absence of overt features of m alabsorption or nutritional deficiency The condition progressed despit e strict adherence to diet. The neurological syndrome was dominated by action and stimulus sensitive myoclonus of cortical origin with mild ataxia and infrequent seizures. Plasmapharesis and immunosuppresive tr eatment were tried in two patients but were not beneficial. Post-morte m examination of the brain in one case showed selective symmetrical at rophy of the cerebellar hemispheres with Purkinje cell loss and Bergma nn astrocytosis, and with preservation of the cerebral hemispheres and brainstem. Coeliac disease should be considered in the differential d iagnosis of all patients presenting with a progressive myoclonic ataxi c syndrome.