Electrophysiological variability as marker of dystonia worsening under deep brain stimulation successive withdrawal and renewal effects.

DBS has been shown to be an effective intervention for neurological disorders. However, the intervention is complex and many aspects have not been understood. Various clinical situations have no solution and follow trial and error approaches.

Thirty Years of Global Deep Brain Stimulation: "Plus ça change, plus c'est la même chose"?

Background: The advent of deep brain stimulation (DBS) of the subthalamic nucleus (STN) for Parkinson's disease 30 years ago has ushered a global breakthrough of DBS as a universal method for therapy and research in wide areas of neurology and psychiatry. The literature of the last three decades has described numerous concepts and practices of DBS, often branded as novelties or discoveries. However, reading the contemporary publications often elicits a sense of déjà vu in relation to several methods, attributes, and practices of DBS.

Application of quantum machine learning using quantum kernel algorithms on multiclass neuron M-type classification.

The functional characterization of different neuronal types has been a longstanding and crucial challenge. With the advent of physical quantum computers, it has become possible to apply quantum machine learning algorithms to translate theoretical research into practical solutions. Previous studies have shown the advantages of quantum algorithms on artificially generated datasets, and initial experiments with small binary classification problems have yielded comparable outcomes to classical algorithms.

The changing face of reported status dystonicus - A systematic review.

Background: Status Dystonicus (SD) represents the most severe end of the spectrum of dystonia. We aimed to explore whether reported features of cases of SD have changed over time.

Methods: A systematic review of cases of SD reported from 2017 to 2023 and comparison of features to data extracted from 2 previous literature reviews (epochs 2012-2017 and pre-2012).

Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.

Background: Cerebral Palsy (CP) represents a frequent cause of disability in childhood. Early in life, genetic disorders may present with motor dysfunction and diagnosed as CP. Establishing the primary, genetic etiology allows more accurate prognosis, genetic counselling, and planning for symptomatic interventions in homogeneous etiological groups.

Highlighting the Dystonic Phenotype Related to GNAO1.

Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.

Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.

Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years).

Comparison of methylation episignatures in - and -related human disorders.

To investigate peripheral blood methylation episignatures in -related dystonia (DYT-), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-based assay and compared the findings with those in controls and patients with -related Kabuki syndrome type 1 (KS1). A total of 1812 significantly differentially methylated CpG positions (false discovery rate < 0.05) were detected in DYT samples compared with controls.

Electrophysiological Signature and the Prediction of Deep Brain Stimulation Withdrawal and Insertion Effects.

Deep brain stimulation (DBS) serves as a treatment for neurological and psychiatric disorders, such as Parkinson's disease (PD), essential tremor, dystonia, Tourette Syndrome (GTS), Huntington's disease, and obsessive-compulsive disorder (OCD). There is broad experience with the short-term effects of DBS in individual diseases and their signs/symptoms. However, even in acute treatment and for the same disorder or a given disorder, a prediction of effect is not perfect.

Judith Balkányi-Lepintre (1912-1982): first woman neurosurgeon, first woman war neurosurgeon, and first woman pediatric neurosurgeon in France.

Recently, a series of historical reports portrayed the first women neurosurgeons in various countries. One such woman, a pioneer on many levels, remained unrecognized: Judith Balkányi-Lepintre. She was the first woman neurosurgeon in France, the first woman war neurosurgeon for the French Army, and the first woman pediatric neurosurgeon in France.

Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective.

Aim: To provide insight into outcome and long-term safety and efficacy of deep brain stimulation (DBS), from the perspective of individuals with Lesch-Nyhan disease (LND) and their families.

Method: We used patient-centered outcome measures to assess long-term outcomes of DBS for 14 individuals (mean [SD] age 10y 10mo [5y 6mo], range 5-23y, all males) with LND, after an average duration of 5y 6mo (range 11mo-10y 5mo) after surgery. We compared these results with a comprehensive review of previously published cases.

Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia.

Early-onset torsion dystonia (TOR1A/DYT1) is a devastating hereditary motor disorder whose pathophysiology remains unclear. Studies in transgenic mice suggested abnormal cholinergic transmission in the putamen, but this has not yet been demonstrated in humans. The role of the cerebellum in the pathophysiology of the disease has also been highlighted but the involvement of the intrinsic cerebellar cholinergic system is unknown.

Comparison between 1.5- and 3-T Magnetic Resonance Acquisitions for Direct Targeting Stereotactic Procedures for Deep Brain Stimulation: A Phantom Study.

Introduction: Deep brain stimulation (DBS) is a well-established treatment for movement disorders. High magnetic fields could have an impact on distortion. We evaluated 1.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Objectives: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses.

Methods: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case-finding from international databases, first for the gene implicated by the burden analysis (VPS16), and then for other functionally related genes.

Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort.

: To reveal clinical characteristics of suboptimal responses to deep brain stimulation (DBS) in a multi-country DYT1 dystonia cohort. : In this multi-country multi-center retrospective study, we analyzed the clinical data of DYT1 patients who experienced suboptimal responses to DBS defined as <30% improvement in dystonia scales at the last follow-up compared with baseline. We used a literature-driven historical cohort of 112 DYT1 patients for comparison.