Tremor and other hyperkinetic movements (New York, N.Y.) · 2025
Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Scheller Ute, Paschen Steffen, Maass Fabian, van Riesen Christoph
Аннотация
BACKGROUND: 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.
CASE REPORT: 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.
DISCUSSION: 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.
CASE REPORT: 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.
DISCUSSION: 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.