Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit

TL;DR

A patient with a rare genetic disorder did not benefit from a brain stimulation treatment typically used for tremors.

Contribution

This case suggests VIM DBS may not be effective for POLR3A-related cerebellar tremors.

Findings

VIM DBS did not provide long-term relief for the patient's drug-resistant tremor.

Tremor from POLR3A mutations may involve different brain networks than typical tremor disorders.

Abstract

Deep brain stimulation is an approved therapy for essential tremor and Parkinson’s disease. In addition, VIM-DBS is used off-label for the treatment of tremor syndromes with a different etiology.

We present the case of a woman with a drug-refractory action tremor due to rare compound heterozygous POLR3A mutations. Her treatment with VIM DBS did not lead to a sustained improvement of symptoms.

Tremor due to POLR3A-related cerebellar syndromes may not be responsive to VIM DBS. The networks contributing to cerebellar tremor should be better investigated in terms of where neuromodulatory therapy might be more effective.

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