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An extensive clinical and pathological review of 16 cases of coeliac disease from Birmingham reported the presence of dementia, peripheral neuropathy and spinal cord dysfunction 205.  In addition, many patients had ataxia, in some of whom there was also position sense loss205.

 

1.6.12.1 Clinical Manifestations

The first report of myoclonus associated with coeliac disease was that of Finelli et al in 1980 206.  They described a 56 year old man who developed generalized ataxia with nystagmus.  Despite a gluten free diet, his condition deteriorated and he developed rhythmic tremor of the eyelids, chin and palate.

Bhatia et al reported four patients with progressive myoclonic ataxia associated with coeliac disease 207.

 

1.6.12.2 Myoclonus

Bhatia et al’s cases had action myoclonus, stimulus sensitive myoclonus and two had seizures207.

 

1.6.12.3 Special Investigations

Electrophysiology appears typical of cortical myoclonus207.

 

1.6.12.4 Neuropathology

In Finelli’s case, at autopsy there was marked cerebellar atrophy with loss of neurons in the dentate nucleus and marked Purkinje cell loss206.

In Bhatia et al’s report, autopsy of one patient revealed atrophy of the cerebellar hemispheres 207.  Histology of the cerebral cortex was normal, as were the basal ganglia and thalamus.  There was marked loss of Purkinje cells in the cerebellum with marked Bergmann astrocytosis.  There was astrocytosis of the internal granular cell layer and  of the dentate nucleus, and olives with mild neuronal loss in the latter.

In a case of celiac disease, associated with GTCS and ataxia, in the cerebellum there was neuronal atrophy in the dentate nucleus and astrocytic hypertrophy, with focal Purkinje cell loss throughout the cerebellar cortex.  Neuronal atrophy with perivascular cuffing with lymphocytes was seen in the olivary nuclei205

 

  205.   Cooke WT, Smith WT. Neurological disorders associated with adult coeliac disease. Brain 1966;89:683-722.

  206.   Finelli PF, McEntee WJ, Ambler M, Kestenbaum D. Adult celiac disease presenting as cerebellar syndrome. Neurology 1980;30:245-9.

  207.   Bhatia KP, Brown P, Gregory R, Lennox GG, Manji H, Thompson PD, Ellison, DW, Marsden CD. Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum. [Review] [14 refs]. Brain 1995;118:1087-93.

 

 

 

References