A5013166591- Obsessive-Compulsive Spectrum Disorders
- Neurological disorders and treatments
- Autism Spectrum Disorder Research
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Psychosomatic Disorders and Their Treatments
- Eating Disorders and Behaviors
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Body Image and Dysmorphia Studies
- Neurological diseases and metabolism
- Autoimmune Neurological Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Attention Deficit Hyperactivity Disorder
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Metabolism and Genetic Disorders
- Hereditary Neurological Disorders
- Neurological and metabolic disorders
- Transcranial Magnetic Stimulation Studies
- Behavioral and Psychological Studies
- Neural and Behavioral Psychology Studies
- Neuroscience and Music Perception
- Genomics and Rare Diseases
- Tactile and Sensory Interactions
Toronto Western Hospital
2024-2025
University of Toronto
2024-2025
Charité - Universitätsmedizin Berlin
2017-2025
Freie Universität Berlin
2021-2025
Humboldt-Universität zu Berlin
2021-2025
Krembil Foundation
2025
Krembil Research Institute
2025
John Wiley & Sons (United States)
2024
Albany Medical Center Hospital
2024
The Ohio State University
2024
Abstract Part II of the European clinical guidelines for Tourette syndrome and other tic disorders (ECAP journal, 2011) provides updated information recommendations psychological interventions individuals with disorders, created by a working group Society Study Syndrome (ESSTS). A systematic literature search was conducted to obtain original studies published since initial were issued. Relevant identified using computerized searches MEDLINE PsycINFO databases years 2011–2019 manual...
Since the beginning of COVID-19 pandemic, our colleagues working at eight different Tourette syndrome (TS) clinics globally have witnessed a parallel pandemic young people aged 12 to 25 years (almost exclusively girls and women) presenting with rapid onset complex motor vocal tic-like behaviors.1 In most cases, these behavioral patterns are consistent functional neurological disorder. There been striking commonalities in phenomenology behaviors observed across centers Canada, United States,...
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations result severe reduction of synthesis cells and are most common cause DOPA-responsive dystonia, a rare disease that classically presents childhood with generalized dystonia dramatic long-lasting response to levodopa. We describe clinical, genetic dopaminergic imaging ([123I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) tropane single photon...
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME Asia. Using genome sequencing repeat-primed PCR, we identify another site this expansion, MARCH6 (FAME3) four European families. Analysis single DNA molecules with nanopore molecular combing show that range from 3.3 to 14 kb on average. However, observe considerable variability...
Background A contribution of aberrant interoceptive awareness to the perception premonitory urges in Gilles de la Tourette syndrome (GTS) has been hypothesized. Methods We assessed 19 adults with GTS and 25 age-matched healthy controls using heartbeat counting task. also used multiple regression explore whether severity was predicted by or tics obsessive-compulsive symptoms. Results observed lower compared controls. Interoceptive strongest predictor GTS, greater being associated more urges....
<h3>Background</h3> Despite the common notion that premonitory urges facilitate tic inhibition, no studies have investigated this question systematically. We examined relation of trait with tics and suppression. hypothesised patients more would be efficient at inhibiting tics. <h3>Methods</h3> 15 adult (14 men, mean age 32.2±7.9 years) pure Gilles de la Tourette syndrome participated. Tic severity was evaluated using modified Rush Video Scale by employing Yale Global Severity Scale....
<h3>Introduction</h3> Knowledge regarding tremor prevalence and phenomenology in patients with adult-onset primary dystonia is limited. Dystonic presumably under-reported, we aimed to assess the clinical correlates of dystonia. <h3>Methods</h3> We enrolled 473 consecutive different types They were assessed for presence head arm (rest, postural kinetic). <h3>Results</h3> A total 262 (55.4%) tremulous: 196 presented tremor, 140 98 them had a combination tremor. Of all 103 (73.6%) also kinetic...
Background and purpose Functional tics, also called psychogenic tics or pseudo‐tics, are difficult to diagnose because of the lack diagnostic criteria their clinical similarities organic tics. The aim present study was report a case series patients with documented functional describe characteristics, risk factors psychiatric comorbidity. Also tips suggested which might help differential diagnosis in practice. Methods results Eleven (mean age at onset 37.2, SD 13.5; three females) were...
Tourette syndrome is a neuropsychiatric disorder characterized by tics. Tic generation often linked to dysfunction of inhibitory brain networks. Some previous behavioral studies found deficiencies in motor control syndrome, but others suggested normal or even better-than-normal performance. Furthermore, neural correlates action inhibition these patients are poorly understood. We performed event-related functional magnetic resonance imaging during stop-signal reaction-time task 14...
<h3>Objective:</h3> To determine the contribution of <i>ADCY5</i> mutations in cases with genetically undefined benign hereditary chorea (BHC). <h3>Methods:</h3> We studied 18 unrelated BHC (7 familial, 11 sporadic) who were negative for <i>NKX2-1</i> mutations. The diagnosis was based on presence a childhood-onset movement disorder, predominantly characterized by and no other major neurologic features. analysis performed whole-exome sequencing or Sanger sequencing. expression during brain...
The diagnosis of psychogenic paroxysmal movement disorders (PPMD) can be challenging, in particular their distinction from the primary dyskinesias (PxD) remains difficult.Here we present a large series 26 PPMD cases, describe characteristics, contrast them with PxD and focus on distinguishing diagnostic features.Mean age at onset was 38.6 years, i.e. much later than PxD. Women were predominantly affected (73%). Most subjects (88.4%) had long attacks, unlike there very high within-subject...
Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by an impaired ability to inhibit unwanted behaviour. Although the presence of chronic motor and vocal tics defines Tourette's syndrome, other distinctive behavioural features like echo- coprophenomena, non-obscene socially inappropriate behaviour are also core features. We investigated neuronal activation during stimulus-driven execution inhibition prepared movements in syndrome. To this end, we performed...