A Case of Voltage-gated Calcium Channel and TG6-antibody Positive Cerebellar Ataxia
Alberto Cifelli1, Zain Butt2, Eva Cifelli3, Marios Hadjivassiliou4
1BARKING, HAVERING AND REDBRIDGE UNIVERSITY HOSPITALS NHS TRUST, 2Barts and the London School of Medicine and Dentistry, 3Queen's college, University of Cambridge, 4Sheffield Ataxia Centre, Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield
Objective:
To describe a rare case of voltage-gated calcium channel (VGCC) and TG6 antibody-related ataxia and the response to treatment, in which a strict gluten-free diet, alongside corticosteroids, intravenous immunoglobulins and mycophenolate, was instituted.
Background:
VGCC antibodies are most often associated with Lambert-Eaton myasthenic syndrome (LEMS), with a small proportion of patients also experiencing ataxia. Immune ataxias form a substantial part of the progressive ataxias and merit diagnostic consideration as they are potentially treatable. A number of autoantibodies have been reported in association with cerebellar ataxia, and VGCCA should be included in any laboratory screening in this setting.
Results:
A 22-year-old lady developed over a few weeks progressive appendicular and limb ataxia and dysarthria. She was found to have a high titre of anti-voltage-gated calcium channel antibodies (VGCCA) and was started on immunosuppressive and immunomodulating therapy with no further worsening of her neurological status. Subsequent testing revealed that she was also TG6-antibody positive, and a gluten-free diet was added to her management, following which improvement in cerebellar N-acetyl-aspartate (NAA) concentration (an index of neuronal health/integrity) was noted on magnetic resonance spectroscopy (MRS), while her clinic picture remined static.
Our patient was notable for the lack of tumour association, the presence of an asymptomatic neuromuscular junction disorder, the finding of gluten sensitivity and the response to treatment with corticosteroids, intravenous immunoglobulins, Mycophenolate and a gluten-free diet, which led to stabilisation of the clinical and radiological picture, but did not prevent significant neurological sequelae.
Conclusions:
VGCCA-related ataxia is a rare but treatable condition that should be considered in all cases where immune-mediated cerebellar disease is suspected. Our case highlights the potential presentation of these patients and a potential for interventions based around immunological screening.
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