Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome

S Tisch, KR Kumar - Frontiers in neurology, 2021 - frontiersin.org
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention
for medically refractory segmental and generalized dystonia in both children and adults …

Deep brain stimulation for refractory status dystonicus in children: multicenter case series and systematic review

LM Vogt, H Yan, B Santyr, S Breitbart… - Annals of …, 2024 - Wiley Online Library
Objective We sought to better understand the workflow, outcomes, and complications of
deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic …

Highlighting the Dystonic Phenotype Related to GNAO1

T Wirth, G Garone, MA Kurian, A Piton… - Movement …, 2022 - Wiley Online Library
Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …

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

S Tisch - Current Opinion in Neurology, 2022 - journals.lww.com
Deep brain stimulation in dystonia: factors contributing to... : Current Opinion in Neurology
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and …

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset

N Mirza-Schreiber, M Zech, R Wilson, T Brunet… - Brain, 2022 - academic.oup.com
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily
abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is …

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

A Ciolfi, A Foroutan, A Capuano, L Pedace… - Clinical …, 2021 - Springer
Background Dystonia is a clinically and genetically heterogeneous movement disorder
characterized by sustained or intermittent muscle contractions causing abnormal, often …

Genetic screening of a Hungarian cohort with focal dystonia identified several novel putative pathogenic gene variants

A Salamon, ZF Nagy, M Pál, M Szabó, Á Csősz… - International Journal of …, 2023 - mdpi.com
Dystonia is a rare movement disorder which is characterized by sustained or intermittent
muscle contractions causing abnormal and often repetitive movements, postures, or both …

Dystonia

CD Stephen, K Simonyan, L Ozelius… - Neurobiology of Brain …, 2023 - Elsevier
Dystonia is a common movement disorder involving abnormal, often twisting postures and is
a challenging condition to diagnose as we present here in a comprehensive overview. The …

GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis

R Rajan, K Garg, A Saini… - Movement Disorders …, 2022 - Wiley Online Library
Background Early evidence suggests good response to pallidal deep brain stimulation
(DBS) in DYT‐KMT2B. Objectives We aimed to conduct a systematic review and meta …

Long-term outcomes of deep brain stimulation for pediatric dystonia

C Malatt, M Tagliati - Pediatric Neurosurgery, 2022 - karger.com
Background: Deep brain stimulation (DBS) has been utilized for over two decades to treat
medication-refractory dystonia in children. Short-term benefit has been demonstrated for …