Cerebellar ataxia and coeliac disease

• Published in: The Lancet (British edition) Vol. 362; no. 9395; p. 1548
• Main Authors: Sander, Howard W, Magda, Paul, Chin, Russell L, Wu, Anita, Brannagan, Thomas H, Green, Peter HR, Latov, Norman
• Format: Journal Article
• Language: English
• Published: London Elsevier Ltd 08.11.2003; Lancet; Elsevier Limited
• Subjects: Adult; Ataxia; Autoimmune diseases; Biological and medical sciences; Case reports; Celiac disease; Celiac Disease - diagnosis; Celiac Disease - drug therapy; Celiac Disease - epidemiology; Cerebellar ataxia; Cerebellar Ataxia - diagnosis; Cerebellar Ataxia - drug therapy; Cerebellar Ataxia - epidemiology; Cerebellum; Comorbidity; Disease; Female; Gastroenterology. Liver. Pancreas. Abdomen; Gluten; Humans; Immunoglobulins; Immunoglobulins, Intravenous - therapeutic use; Immunosuppression; Medical sciences; Medical treatment; Neurological disorders; Other diseases. Semiology; Patients; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Human; Cerebellum; Immunopathology; Nervous system diseases; Immunoglobulins; Intravenous administration; Coeliac disease; Cerebral disorder; Case study; Chemotherapy; Concomitant disease; Treatment; Cerebellar disease; Intestinal malabsorption; Central nervous system disease; Young adult; Digestive diseases; Intestinal disease; Ataxia; Diagnosis; Neurological disorder
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(03)14743-5

A 37-year-old woman presented in July, 2002, with a 12-year history of progressive dysarthria and ataxia. Her symptoms became noticeably worse during pregnancy in 1999 and 2001. She had also been anaemic for the past 7 years, and coeliac disease had been diagnosed in 1997. At that time, she had high serum concentrations of IgG and IgA antibodies to gliadin, an endomysial titre of 1:32, and duodenal atrophy on endoscopy; a duodenal biopsy showed subtotal villous atrophy. Neurological tests were done at the same time; median somatosensory evoked potentials showed a delay between the lower brainstem and cortex. She underwent tests for spinocerebellar ataxia,1-3 brainstem auditory and visual evoked potentials, and cerebral MRI, none of which showed any abnormalites. Cervical spine MRI showed mild degenerative changes. For 5 years, she had followed a strict gluten-free diet, but on examination in 2002 she had severe dysarthria, left finger-to-nose dysmetria, poor right rapid-alternating and fine-finger movements, diminished pedal pin-perception, ankle areflexia, and a severely ataxic, wide-based gait. A modified (without Archimedes Spiral) International Cooperative Ataxia Rating scale (ICARS) score was 31/96.4 We did many serological tests for autoimmune disease including IgG and IgA antibodies to gliadin, purkinje cells, and voltage-gated calcium channels. The only abnormal results were increased IgA antibodies to transglutaminase, and glutamic acid decarboxylase (GAD). Cerebral MRI showed superior vermis atrophy, whereas lumbosacral MRI was normal. Sensory nerve conduction amplitudes were low. H reflexes were absent. Electromyography showed prolonged durations of motor unit potentials distally.