Objective: To evaluate the effect and the side effects of deep brain stimulation on the tremor of a patient with neuronal intranuclear inclusion disease (NIID).

Background: About 5.6% of familial essential tremor (ET) patients were caused by the dynamic mutation of NOTCH2NLC, which is the causative gene of NIID. Abrupt cognitive dysfunction was reported in a patient with NIID whose tremor was well controlled by bilateral VIM DBS in 6 months after operation.

Method: The clinical materials of the patient were collected. The dynamic mutations of NOTCH2NLC were detected by triplet repeat primed polymerase chain reaction (TP-PCR) and capillary electrophoresis. The tremor was rated by Fahn-Tolosa-Marin Tremor Rating Scale (FTMTRS) and Tremor Research Group Essential Tremor Rating Assessment Scale (TETRAS). The cerebellar ataxia was rated by International Cooperative Ataxia Rating Scale (ICARS). The Quality of life was rated by TETRAS activities of daily living (ADL).

Results: The 63-year-old female patient with no family history suffered from action tremor in both arms and voice for 20 years. She took primidone 75 mg per day and arotinolol 5 mg twice a day but with poor effect. She exhibited a left dominant postural and intention tremor in both upper extremities. Mild tandem gait impairment was observed. Brain magnetic resonance imaging indicated leukoencephalopathy and bilateral lesions in both peduncles. Genetic testing indicated a CAG triplet expansion in NOTCH2NLC (14/>152). A bilateral VIM DBS was performed to treat the tremor. Four weeks after operation, when the stimulation was on, the tremor obviously decreased by a monopolar stimulation in the lowest contact. The patient then followed up each year for 2 years. The tremor and the ADL improved. Though we did not record the score of MMSE and MoCa, the cognitive dysfunction was not deteriorated further after operation (Table 1).

Conclusion: DBS is a therapy for the suppression of tremor of a variety of etiologies including NIID. Whether it may affect cognitive function should be observed for a longer time.

Table 1

Figure

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MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-of-bilateral-ventral-intermediate-nucleus-in-patients-with-neuronal-intranuclear-inclusion-disease/