Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

The pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia's development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat.

Comparison of Guided and Unguided Botulinum Injections for Cervical Dystonia: EMG, Ultrasound, and Anatomic Landmarks.

Background: Botulinum Toxin type A (BonTA) is the preferred treatment for Cervical Dystonia (CD). However, the success rate is often suboptimal. One of the reasons for treatment failure is the in accuracy of injections.

Second-generation antipsychotic-induced dystonia: Analysis using the Japanese Adverse Drug Event Report (JADER) database.

Aim: This study aimed to explore the comparative risks for dystonia among different second-generation antipsychotics (SGAs), the influence of sex, and the relationship between the time-to-onset of dystonia and its outcomes.

Methods: We analyzed data from the Japanese Adverse Drug Event Report database from April 2004 to November 2023. Cases involving oral SGAs, excluding clozapine, were extracted.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.

Pallidal Spike-Train Variability and Randomness Are the Most Important Signatures to Classify Parkinson's Disease and Cervical Dystonia.

Movement disorders such as Parkinson's disease (PD) and cervical dystonia (CD) are associated with abnormal neuronal activity in the globus pallidus internus (GPi). Reduced firing rate and presence of spiking bursts are typical for CD, whereas PD is characterized by high frequency tonic activity. This research aims to identify the most important pallidal spiking parameters to classify these conditions.

The Role of Ultrasound in the Evaluation of Tardive Dyskinesia: A Case Series.

Background: Despite efforts to visualize all the movements of tongue and oropharynx in individuals with focal movement disorders (specifically tardive dyskinesia (TD)), clinicians can miss the complete picture and additional tools may be required to reach an accurate diagnosis.

Cases: We present three cases with TD where ultrasound assisted in diagnoses. These individuals had difficulty swallowing and abnormal sensations in the tongue, which remained undiagnosed until we performed ultrasound of oropharynx which allowed for characterization of these movements.

Diagnosing Huntington's disease on the medical ward.

An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made.

When the Expected Scenario Did Not Occur: A Novel Mutation Resembling Neuromyelitis Optica Spectrum Disorder.

Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. , located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the mutations are associated with Leigh syndrome and complex I defects.

Clinical features and factors associated with outcomes of antibody-negative autoimmune encephalitis in patients requiring intensive care.

Background And Objectives: Antibody-negative autoimmune encephalitis (AE) is a form of encephalitis characterized by the absence of detectable autoimmune antibodies, despite immunological evidence. However, data on management of patients with antibody-negative AE in the intensive care unit (ICU) are limited. This study aimed to explore the characteristics and subtypes of antibody-negative AE, assess the effects of immunotherapy, and identify factors independently associated with poor functional outcomes in patients requiring intensive care.

VPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.

Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.

A multi-modal neuroimaging data release for Meige Syndrome and Facial Paralysis Research.

The sharing of multimodal magnetic resonance imaging (MRI) data is of utmost importance in the field, as it enables a deeper understanding of facial nerve-related pathologies. However, there is a significant lack of multi-modal neuroimaging databases specifically focused on these conditions, which hampers our comprehensive knowledge of the neural foundations of facial paralysis. To address this critical gap and propel advancements in this area, we have released the Multimodal Neuroimaging Dataset of Meige Syndrome, Facial Paralysis, and Healthy Controls (MND-MFHC).

Pathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.

Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.

Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.

Genomic characterization of Huntington's disease genetic modifiers informs drug target tractability.

Huntington's disease is caused by a CAG repeat in the gene. Repeat length correlates inversely with the age of onset but only explains part of the observed clinical variability. Genome-wide association studies highlight DNA repair genes in modifying disease onset, but further research is required to identify causal genes and evaluate their tractability as drug targets.

Disgust and Other Negative Emotions in the Relationship between Mental Contamination and Post-Traumatic Stress Disorder: A Systematic Review.

Background: Mental contamination (MC) refers to feelings of internal filthiness associated with contamination obsessions. Ego-dystonic memories and thoughts can trigger MC, although it can also be activated by trauma, which is associated with the onset of post-traumatic stress disorder (PTSD). Research shows that MC, negative emotions and PTSD can occur simultaneously.

DaxibotulinumtoxinA Treatment for Laryngeal Respiratory Dystonia.

Background: Laryngeal respiratory dystonia (LRD) is diagnosed based on clinical presentation, patient history, and physical examination. Key indicators include dyspnea, desynchronized breathing patterns, and laryngoscopic findings that reveal vocal fold adduction during inspiration. Treatment for LRD remains controversial and often yields limited effectiveness.

Botulinum toxin therapy in Parkinson disease-related lower limb dystonia. An 8 year retrospective review.

Background: Lower extremity dystonia (LED) is a frequent complication of Parkinson disease (PD). Treatment with botulinum neurotoxinA (BoNTA) over 8 years was retrospectively reviewed.Cases14 patients with LED received an average of 3.