Objective: TBK1 mutations have been associated with a range of neurological disorders, but their association with tremor is not well-documented. Here, we present a case report of a patient with a TBK1 mutation resulting in tremor, impulsivity, frontotemporal dementia (FTD), and fasciculations. We also conducted a electrophysiological assessment of the tremor in this case.

Background: The patient 56 year old male presented with a progressive oromandibular dyskinesia, mild tremor affecting his upper limbs, initially mistaken for drug induced tremors. However, further assessments revealed additional symptoms such as impulsivity, frontal lobe dysfunctions, and fasciculations, leading to genetic testing which revealed the TBK1 mutation.

Method: We conducted a comprehensive electrophysiological assessment of the patient’s tremor using surface electromyography (sEMG), accelerometry, and tremor analysis.

Results: The sEMG recordings revealed that the tremor was not only present during rest but also during movement, with a frequency of 5-6 Hz.

Conclusion: This case report highlights the importance of considering TBK1 mutations in the differential diagnosis of patients presenting with tremor, particularly in the presence of additional neurological symptoms such as FTD and fasciculations. The comprehensive electrophysiological assessment of the tremor provides valuable insights into the nature of tremor associated with TBK1 mutations, which could aid in the diagnosis and management of similar cases in the future.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/tremors-and-more-a-case-report-of-tbk1-mutation-and-electrophysiological-assessment/