Dataset Information

Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia.

ABSTRACT:

Objectives

Spinocerebellar ataxia 27 (SCA 27) is a rare heredodegenerative disorder caused by mutations in the fibroblast growth factor 14 (FGF14) and characterized by early-onset tremor and progressive ataxia later during the disease course. We investigated the effect of deep brain stimulation (DBS) of the ventralis intermedius nucleus of the thalamus (VIM) and subthalamic projections on tremor and ataxia.

Methods

At baseline, we studied the effects of high-frequency VIM stimulation and low-frequency stimulation of subthalamic projections on tremor and ataxia. The patient then adopted the best individual high-frequency stimulation programme at daytime and either 30 Hz-stimulation of the subthalamic contacts or StimOFF at night during two separate 5-weeks follow-up intervals. Both patient and rater were blinded to the stimulation settings.

Results

High-frequency stimulation of the VIM effectively attenuated tremor. At follow-up, intermittent 30 Hz-stimulation at night resulted in a superior tremor response compared to StimOFF at night. Ataxia was not affected.

Discussion

Stimulation of the VIM and adjacent subthalamic projections effectively attenuated tremor in a patient with confirmed SCA 27. Cycling between daytime high-frequency and night-time low-frequency stimulation led to a more sustained tremor response. This suggests to study in future if low-frequency stimulation of the subthalamic projection fibers may help overcome tolerance of tremor that is observed as a long-term limitation of VIM-DBS.

SUBMITTER: Loeffler MA

PROVIDER: S-EPMC9795845 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Case Report: Deep brain stimulation improves tremor in <i>FGF-14</i> associated spinocerebellar ataxia.

Loeffler Moritz A MA Synofzik Matthis M Cebi Idil I Klocke Philipp P Hormozi Mohammad M Gasser Thomas T Gharabaghi Alireza A Weiss Daniel D

Frontiers in neurology 20221214

<h4>Objectives</h4>Spinocerebellar ataxia 27 (SCA 27) is a rare heredodegenerative disorder caused by mutations in the <i>fibroblast growth factor 14</i> (<i>FGF14</i>) and characterized by early-onset tremor and progressive ataxia later during the disease course. We investigated the effect of deep brain stimulation (DBS) of the ventralis intermedius nucleus of the thalamus (VIM) and subthalamic projections on tremor and ataxia.<h4>Methods</h4>At baseline, we studied the effects of high-frequenc ...[more]

PMID: 36588880

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Project description:Background: The cerebellum plays an important role in the pathogenesis and pathophysiology of movement disorders, including tremor and dystonia. To date, there have been few reports on deep cerebellar stimulation. Case Report: The patient was a 35-year-old previously healthy man with no history of movement disorders. He developed a tremor and stiffness in his left hand at the age of 27 years, which was diagnosed as a dystonic tremor. We performed right thalamotomy, which resulted in a complete resolution of the tremor; however, the dystonia persisted. Subsequently, the patient developed left foot dystonia with inversion and a newly developed tremor in the right hand and foot. The patient underwent left ventralis intermedius (VIM) deep brain stimulation (VIM-DBS) and left pallidothalamic tract DBS (PTT-DBS). Left VIM-DBS completely resolved the right hand and foot tremor, and PTT-DBS significantly improved the left hand and foot dystonia. Three months postoperatively, the patient developed an infection and wound disruption at the surgical site. We performed palliative surgery for deep cerebellar stimulation via the posterior cranial region, which was not infected. The surgery was performed under general anesthesia with the patient lying in the prone position. Eight contact DBS electrodes were used. The placement of electrodes extended from the superior cerebellar peduncle to the dentate nucleus. Both the right hand and foot tremor improved with right cerebellar stimulation. Further, both the left hand and foot dystonia improved with left cerebellar stimulation. Right and left cerebellar stimulation led to no improvement in the left hand and foot dystonia and right hand and foot tremor, respectively. Stimulation-induced complications observed in the patient included dizziness, dysphagia, and dysarthria. After the surgery, the patient developed hypersalivation and hyperhidrosis in the left side of the body, both of which did not improve with adjustments of stimulation parameters. At the 6-month follow-up, the tremor and dystonia had almost completely resolved. Conclusion: Deep cerebellar stimulation deserves consideration as a potential treatment for tremor and dystonia.