Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.

Journal of neuromuscular diseases·2026
Same author

The economic burden of dementia in Europe: COIN-Eu dementia.

Journal of Alzheimer's disease : JAD·2026
Same author

STN-DBS and LCIG differentially affect long-term axial symptoms in Parkinson's disease.

NPJ Parkinson's disease·2026
Same author

A digital twin approach for simultaneous reconstruction of brain anatomy and dynamics from neural data.

PLOS digital health·2026
Same author

Cardio-kidney-metabolic overlap in patients with severe heart failure: Data from the HELP-HF registry.

American heart journal·2026
Same author

Observations on an Open-Label Phase 1/2 Dopamine Gene Therapy Trial (OXB-102/Axo-Lenti-PD) in People with Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society·2026

Related Experiment Video

Updated: Sep 18, 2025

Analysis of Gene Expression Changes in the Rat Hippocampus After Deep Brain Stimulation of the Anterior Thalamic Nucleus
09:46

Analysis of Gene Expression Changes in the Rat Hippocampus After Deep Brain Stimulation of the Anterior Thalamic Nucleus

Published on: March 8, 2015

11.1K

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.

Tatiana Svorenova1,2, Luigi M Romito3, Ahmet Kaymak4

  • 1Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.

Annals of Neurology
|June 20, 2025
PubMed
Summary

Deep brain stimulation (DBS) effectively treated 73% of patients with VPS16-related dystonia, showing sustained motor improvements over time. This suggests DBS is a viable option for managing this rare neurological condition.

More Related Videos

Controlling Parkinson's Disease With Adaptive Deep Brain Stimulation
11:12

Controlling Parkinson's Disease With Adaptive Deep Brain Stimulation

Published on: July 16, 2014

22.6K
Targeting Neuronal Fiber Tracts for Deep Brain Stimulation Therapy Using Interactive, Patient-Specific Models
14:14

Targeting Neuronal Fiber Tracts for Deep Brain Stimulation Therapy Using Interactive, Patient-Specific Models

Published on: August 12, 2018

9.0K

Related Experiment Videos

Last Updated: Sep 18, 2025

Analysis of Gene Expression Changes in the Rat Hippocampus After Deep Brain Stimulation of the Anterior Thalamic Nucleus
09:46

Analysis of Gene Expression Changes in the Rat Hippocampus After Deep Brain Stimulation of the Anterior Thalamic Nucleus

Published on: March 8, 2015

11.1K
Controlling Parkinson's Disease With Adaptive Deep Brain Stimulation
11:12

Controlling Parkinson's Disease With Adaptive Deep Brain Stimulation

Published on: July 16, 2014

22.6K
Targeting Neuronal Fiber Tracts for Deep Brain Stimulation Therapy Using Interactive, Patient-Specific Models
14:14

Targeting Neuronal Fiber Tracts for Deep Brain Stimulation Therapy Using Interactive, Patient-Specific Models

Published on: August 12, 2018

9.0K

Area of Science:

  • Neurology
  • Genetics
  • Neurosurgery

Background:

  • Dystonia is a movement disorder characterized by involuntary muscle contractions.
  • VPS16-related dystonia is a rare genetic subtype of dystonia.
  • Medically refractory dystonia often requires advanced treatment options.

Purpose of the Study:

  • To evaluate the efficacy of deep brain stimulation (DBS) in patients with VPS16-related dystonia.
  • To assess motor and disability outcomes following DBS implantation.
  • To identify factors associated with treatment response.

Main Methods:

  • An international observational study involving 26 patients with medically refractory DYT-VPS16.
  • Preoperative and postoperative data collection including clinical, genetic, and neuroimaging information.
  • Assessment of motor symptoms and disability using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS).

Main Results:

  • 73% of patients (19/26) responded to DBS, achieving at least a 25% improvement in BFMDRS-M.
  • Mean motor improvement was 41.6% and disability improvement was 34.8% at the last follow-up.
  • Stimulation of the ventroposterior internal globus pallidus correlated with higher motor improvement.
  • Pre-existing spasticity and skeletal deformities were associated with poorer outcomes.

Conclusions:

  • Deep brain stimulation (DBS) is an effective treatment for a majority of patients with VPS16-related dystonia.
  • Motor improvements were most significant at 1-year follow-up but persisted long-term.
  • Factors like age at onset, disease duration, and baseline severity influenced treatment response.