Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up

Tisch, Stephen

doi:10.1097/wco.0000000000001072

Cited by 25 publications

(10 citation statements)

References 84 publications

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“…The effectiveness of DBS varies with the genotype, being notably effective in DYT-TOR1A (DYT1) and myoclonus dystonia DYT-SCGE (DYT11). 8,12,13 Also, myoclonus is responsive to DBS in DYT-SCGE (DYT11), and a similar response was observed in the myoclonus-like jerky movements in our patient. While other genetic forms like X-linked dystonia-parkinsonism DYT/PARK-TAF1 (DYT3), DYT-KMT2B (DYT28), NBIA/DYT-PANK2, and CHOR/DYT-ADCY5 also respond well; some, such as DYT-THAP1 (DYT6), rapid-onset dystonia-parkinsonism DYT/PARK-ATP1A3 (DYT12), and GNAL, show less consistent outcomes.…”

supporting

confidence: 83%

Pallidal Deep Brain Stimulation Improves HPCA‐Linked (DYT 2) Dystonia

Samanci,

Şahin,

Samanci

et al. 2023

Movement Disord Clin Pract

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Dystonia, characterized by involuntary muscle contractions, often impairs quality of life (QoL) despite conventional treatments like oral medication and botulinum toxin injections. While dystoniarelated genes like TOR1A, THAP1, GCH1, and KMT2B are common, the rare hippocalcin (HPCA)-DYT2 variants present diverse clinical pictures and responses to treatment. [1][2][3][4][5][6][7] The efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) varies across monogenic dystonias, and to date, there are no reports of DBS in patients with HPCA variants. 8-10 Here, we present a patient carrying two HPCA variants who underwent successful bilateral GPi DBS.A 20-year-old male with walking and speech difficulties since age 8 and a history of febrile seizures at ages 18 and 24 months was admitted for treatment. His mental and motor developmental milestones were delayed post-seizures, and at 17, he developed lower limb dystonia, which eventually extended to his upper extremities, trunk, and facial muscles within 2 years. Despite normal neurological examinations in his consanguineous parents, he exhibited jerky generalized dystonia affecting mainly trunk, arms, legs, neck, face, bulbar, and laryngeal muscles, accompanied by mild dysphagia for both solids and liquids. Despite normal cranial MRI, electroencephalography, complete blood cell count, biochemical evaluations, serum and urine copper, ceruloplasmin, and CSF evaluation, HPCA:c.G28del-C; (p.-P10PfsTer80) compound heterozygous mutation was determined in the molecular analysis. 3 Initially responsive to Biperiden (12 mg/day) and botulinum toxin, his condition deteriorated, impairing his activities of daily living (ADL) and necessitating assistance for them (Video 1).At 28 years old, the patient underwent a standard bilateral GPi DBS using 8-contact Vercise standard leads (Boston Scientific Corporation), with the first contact positioned in the ventral GPi (Fig. 1). Following the satisfactory final position of the electrodes, the rechargeable internal pulse generator was implanted subclavically. After DBS surgery, the jerky movements and upper limb dystonia decreased on the third day (Video 2). He was able to eat and drink independently. At the first year after the surgery, he was able to walk and sit independently, and he had no dysphagia, with complete independence in ADL (Video 3). Stimulation parameters were as follows: right GPi, À2 + C, 3.3 mA,

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supporting

confidence: 83%

Pallidal Deep Brain Stimulation Improves HPCA‐Linked (DYT 2) Dystonia

Samanci,

Şahin,

Samanci

et al. 2023

Movement Disord Clin Pract

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“…Patients with < 25% improvement after > 12 months of follow-up can be defined as nonresponders. 23 Nonresponse occurs randomly and rarely in selected good candidates and well-placed electrodes, which has been noticed more in recent researches. 24 All 3 patients had experienced transient improvement when turning on stimulation or adjusting the stimulation parameters at follow-up visits.…”

Section: Discussionmentioning

confidence: 99%

Long-term follow-up of pallidal deep brain stimulation for craniocervical dystonia: is the globus pallidus internus the best target?

Zhao,

Ren,

et al. 2024

Neurosurgical Focus

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OBJECTIVE Craniocervical dystonia (CCD) is a common type of segmental dystonia, which is a disabling disease that has been frequently misdiagnosed. Blepharospasm or cervical dystonia is the most usual symptom initially. Although deep brain stimulation (DBS) of the globus pallidus internus (GPi) has been widely used for treating CCD, its clinical outcome has been primarily evaluated in small-scale studies. This research examines the sustained clinical effectiveness of DBS of the GPi in individuals diagnosed with CCD. METHODS The authors report 24 patients (14 women, 10 men) with refractory CCD who underwent DBS of the GPi between 2016 and 2023. The severity and disability of the dystonia were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). The BFMDRS scores were collected preoperatively, 6 months postoperatively, and at the most recent follow-up visit. RESULTS The mean age at onset was 52.0 ± 11.0 years (range 33–71 years) and the mean disease duration was 63.3 ± 73.3 months (range 7–360 months) (values for continuous variables are expressed as the mean ± SD). The mean follow-up period was 37.5 ± 23.5 months (range 6–84 months). The mean total BFMDRS motor scores at the 3 different time points were 13.3 ± 9.4 preoperatively, 5.0 ± 4.7 (55.3% improvement, p < 0.001) at 6 months, and 4.5 ± 3.6 (56.6% improvement, p < 0.001) at last follow-up. The outcomes were deemed poor in 6 individuals. CONCLUSIONS Inferences drawn from the findings suggest that DBS of the GPi has long-lasting effectiveness and certain limitations in managing refractory CCD. The expected stability of the clinical outcome is not achieved. Patients with specific types of dystonia might consider targets other than GPi for a more precise therapy.

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“…1,7,67 Finally, electrical deep brain stimulation (of basal nuclei for instance) has been implemented in some animal models. 68 A mixed breed dog (6-year-old, female neutered) was presented for recurrent episodes of right thoracic limb dystonia. This dystonia was variable in duration (seconds to minutes) and severity (as seen in the video, the dog was intermittently able to use the limb for ambulation or weight bearing).…”

Section: Various Medical Treatments Have Been Reported For Dogs Withmentioning

confidence: 99%

“…Gluten‐free diets are indicated for Border Terriers with confirmed or suspected paroxysmal gluten‐associated dyskinesia and may be considered for other (typically small breed or terrier) dogs with PxD 1,7,67 . Finally, electrical deep brain stimulation (of basal nuclei for instance) has been implemented in some animal models 68‐70 …”

Section: Diagnostic and Treatment Considerationsmentioning

confidence: 99%

Dystonia in veterinary neurology

Santifort

Mandigers

2022

Veterinary Internal Medicne

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Dystonia is a clinical sign and main feature of many movement disorders in humans as well as veterinary species. It is characterized by sustained or intermittent involuntary muscle contractions causing abnormal (often repetitive) movements, postures, or both. This review discusses the terminology and definition of dystonia, its phenomenology, and its pathophysiology, and provides considerations regarding the diagnosis and treatment of dystonia in dogs and cats. In addition, currently recognized or reported disorders in dogs and cats in which dystonia is a particular or main feature are discussed and comparisons are made between disorders featuring dystonia in humans and animals. We suggest that when describing the phenomenology of dogs and cats with dystonia, if possible the following should be included: activity being performed at onset (e.g., resting or running or exercise‐induced), body distribution, duration, responsiveness (subjective), severity, temporal pattern (i.e., paroxysmal or persistent, severity at onset and at later stages), presence or absence of autonomic signs (e.g., salivation), presence or absence of preceding signs (e.g., restlessness), presence or absence of signs after dystonia subsides (e.g., sleepiness), coexistence of other movement disorders, any other neurological manifestations, and possible links to administered medications, intoxications or other associated factors. We also suggest that dystonia be classified based on its etiology as either structural genetic, suspected genetic, reactive, or unknown.

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Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up

Cited by 25 publications

References 84 publications

Pallidal Deep Brain Stimulation Improves HPCA‐Linked (DYT 2) Dystonia

Pallidal Deep Brain Stimulation Improves HPCA‐Linked (DYT 2) Dystonia

Long-term follow-up of pallidal deep brain stimulation for craniocervical dystonia: is the globus pallidus internus the best target?

Dystonia in veterinary neurology

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