Abnormal Connectivity of the Head Neural Integrator in Cervical Dystonia.

Background: Cervical dystonia is characterized by abnormal neck and head movements, possibly related to a dysfunction of the interstitial nucleus of Cajal (INC) and the head neural integrator, a system responsible for the control of head and eye movements. However, neuroanatomical evidence of alterations in the head neural integrator in cervical dystonia is sparse.

Objectives: We investigated structural and functional integrity of the INC and its connections in cervical dystonia.

The Phenomenology of Tics in Adults: Data From the Calgary and Paris Adult Tic Disorders Registry.

Introduction: This study investigated the phenomenology of tics in adults with primary tic disorders (Tourette syndrome, persistent motor or phonic tic disorders) and how these features are influenced by sex. It also examined the prevalence of comorbid psychiatric conditions and psychotropic medication use.

Methods: A cross-sectional study was conducted on 227 adults with primary tic disorders from the Calgary and Paris Adult Tic Registry.

Utility and Value of Movement Recording with Combined EEG-EMG Monitoring in the Intensive Care Unit.

Continuous electroencephalographic (EEG) monitoring has become a standard of care in several contexts in the intensive care unit (ICU), especially for the management of refractory status epilepticus. ICU patients often present movement disorders that may be of epileptic or nonepileptic origin, and their correct identification is crucial for the diagnostic and therapeutic process. Video analysis is often insufficient to precisely detect or characterize movement disorders and the ICU environment is prone to many artifacts.

Developmental variability in paediatric SGCE-related myoclonus dystonia syndrome.

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Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.

Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous neurodevelopmental condition serving as an illustrative paradigm of childhood-onset dystonias, associated with psychiatric symptoms.

The role of psychosis and clozapine load in excessive checking in treatment-resistant schizophrenia: longitudinal observational study.

Background: A significant proportion of people with clozapine-treated schizophrenia develop 'checking' compulsions, a phenomenon yet to be understood.

Aims: To use habit formation models developed in cognitive neuroscience to investigate the dynamic interplay between psychosis, clozapine dose and obsessive-compulsive symptoms (OCS).

Method: Using the anonymised electronic records of a cohort of clozapine-treated patients, including longitudinal assessments of OCS and psychosis, we performed longitudinal multi-level mediation and multi-level moderation analyses to explore associations of psychosis with obsessiveness and excessive checking.

Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.

Background: Monoallelic pathogenic variants of often result in paroxysmal kinesigenic dyskinesia (PKD). Little is known about health-related quality of life (HrQoL), non-motor manifestations, self-esteem, and stigma in patients with PKD.

Objectives: We investigated non-motor symptoms and how they related to HrQoL in a genetically homogeneous group of -PKD patients.

Distinguishing functional from primary tics: a study of expert video assessments.

Background: Reliably applied criteria to differentiate functional from primary tics are lacking. In the absence of biological markers, the development of new diagnostic criteria to assist clinicians is predicated on expert judgement and consensus. This study examines the level of diagnostic agreement of experts in tic disorders using video footage and clinical descriptions.

Fixel-Based Analysis Reveals Whole-Brain White Matter Abnormalities in Cervical Dystonia.

Background: Cervical dystonia (CD) is a form of isolated focal dystonia typically associated to abnormal head, neck, and shoulder movements and postures. The complexity of the clinical presentation limits the investigation of its pathophysiological mechanisms, and the neural networks associated to specific motor manifestations are still the object of debate.

Objectives: We investigated the morphometric properties of white matter fibers in CD and explored the networks associated with motor symptoms, while regressing out nonmotor scores.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.

Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date.

Tourette syndrome: clinical features, pathophysiology, and treatment.

Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating and treating Tourette syndrome is complex, in part due to the heterogeneity of symptoms and comorbidities between individuals. The underlying pathophysiology of Tourette syndrome is not fully understood, but recent research in the past 5 years has brought new insights into the genetic variations and the alterations in neurophysiology and brain networks contributing to its pathogenesis.

Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration.

Tourette syndrome (TS) is characterized by multiple motor and vocal tics, and high-comorbidity rates with other neuropsychiatric disorders. Obsessive compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), major depressive disorder (MDD), and anxiety disorders (AXDs) are among the most prevalent TS comorbidities. To date, studies on TS brain structure and function have been limited in size with efforts mostly fragmented.

Clozapine-related obsessive-compulsive symptoms and their impact on wellbeing: a naturalistic longitudinal study.

Background: Obsessive-compulsive symptoms (OCS) are commonly associated with clozapine treatment but are frequently overlooked by clinicians despite their potential impact on patients' quality of life. In this study, we explored whether OCS severity impacted subjective wellbeing and general functioning, independently of depressive and psychotic symptoms.

Methods: We used anonymised electronic healthcare records from a large cohort of patients who were treated with clozapine and assessed annually for OCS, wellbeing, general functioning, and psychopathology using standardised scales as part of routine clinical practice.