Deep Brain Stimulation in Rare Inherited Dystonias.

Background: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment.

Methods: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case).

Long-term neuropsychiatric outcomes after pallidal stimulation in primary and secondary dystonia.

Objective: To evaluate changes in the diagnosis of Axis I psychiatric disorders in patients with primary and secondary dystonia after deep brain stimulation (DBS) of the globus pallidus internus (GPi).

Methods: Structured Clinical Interviews for the DSM-IV, Axis I psychiatric disorders, were prospectively performed before and after surgery. Diagnoses were made based on DSM-IV criteria.

Bilateral pallidal stimulation for sargoglycan epsilon negative myoclonus.

We report on the clinical efficacy of bilateral globus pallidus internus deep brain stimulation in two patients with myoclonus dystonia/essential myoclonus who lack mutations in the epsilon sarcoglycan gene. The primary outcome measures were the Burke-Fahn-Marsden Dystonia Scale motor severity and the Unified Myoclonus Rating Scale scores, and the secondary outcome measure was the 36-item Short Form Health Survey score at the last postoperative follow up. Neuronal firing rates were also calculated from microelectrode recordings.

Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7.

The aim of this study is to report on the clinical efficacy of epidural thoracic spinal cord stimulation on gait and balance in a 39-year-old man with genetically confirmed spinocerebellar ataxia 7. A RESUME Medtronic electrode was placed at the epidural T11 level. Spatiotemporal gait assessment using an electronic walkway and static posturography were obtained and analyzed in a blinded manner with and without stimulation.

Low-frequency subthalamic nucleus deep brain stimulation for axial symptoms in advanced Parkinson's disease.

Axial symptoms such as freezing of gait and falls are common manifestations of advanced Parkinson's disease (PD) and are partially responsive to medical treatment. High-frequency (≥130 Hz) deep brain stimulation (DBS) of the subthalamic nucleus (STN) is highly efficacious in ameliorating appendicular symptoms in PD. However, it is typically less effective in improving axial symptomatology, especially in the long term.

Bilateral pallidal stimulation for Wilson's disease.

Background: To report on the clinical efficacy of bilateral globus pallidus internus deep brain stimulation in a 29-year-old patient with severe generalized dystonia secondary to Wilson's disease.

Methods: The primary outcome measure was the Burke-Fahn-Marsden Dystonia Scale motor severity score (blinded assessment) and the secondary outcome measures were the Abnormal Involuntary Movement Scale (blinded assessment) and the Zaritt Caregiver Burden Interview score, at 20-week postoperative follow up.

Results: There was a 14% improvement in the Burke-Fahn-Marsden Dystonia Scale motor severity score.

Bilateral pallidal stimulation in cervical dystonia: blinded evidence of benefit beyond 5 years.

The local injection of botulinum toxin is accepted as the first-line treatment of primary cervical dystonia. This approach provides adequate symptomatic relief for most patients, but up to one-third will have an unsatisfactory response. Deep brain stimulation of the globus pallidus internus has been increasingly used in dystonic syndromes that are refractory to best pharmacological approaches.

Ten-year outcome of subthalamic stimulation in Parkinson disease: a blinded evaluation.

Objective: To assess the 10-year motor outcome of deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with Parkinson disease (PD).

Design: Patients with PD with bilateral STN-DBS were assessed according to the Core Assessment Program for Surgical Interventional Therapies in Parkinson's Disease protocol and videotaped at baseline and 1, 5, and 10 years after surgery. An independent rater blinded to stimulation and medication condition scored the 10-year video assessments.

Gamma knife thalamotomy for disabling tremor: a blinded evaluation.

Background: Gamma knife thalamotomy (GKT) has been used as a therapeutic option for patients with disabling tremor refractory to medications. Impressive improvement of tremor has been reported in the neurosurgical literature, but the reliability of such data has been questioned.

Objective: To prospectively evaluate clinical outcomes after GKT for disabling tremor with blinded assessments.