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Background and purpose: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic‐like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic‐like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. Methods: We used a formal consensus development process, using a multiround, web‐based Delphi survey. The survey was based on an in‐person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. Results: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. Conclusions: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity. [ABSTRACT FROM AUTHOR]

Background: Movement disorders are frequent in patients with inborn errors of metabolism (IEMs) but poorly recognized, particularly by nonmovement disorder specialists. We propose an easy‐to‐use clinical screening tool to help recognize movement disorders. Objective: The aim is to develop a user‐friendly rapid screening tool for nonmovement disorder specialists to detect moderate and severe movement disorders in patients aged ≥4 years with IEMs. Methods: Videos of 55 patients with different IEMs were scored by experienced movement disorder specialists (n = 12). Inter‐rater agreements were determined on the presence and subtype of the movement disorder. Based on ranking and consensus, items were chosen to be incorporated into the screening tool. Results: A movement disorder was rated as present in 80% of the patients, with a moderate inter‐rater agreement (κ =0.420, P < 0.001) on the presence of a movement disorder. When considering only moderate and severe movement disorders, the inter‐rater agreement increased to almost perfect (κ = 0.900, P < 0.001). Dystonia was most frequently scored (27.3%) as the dominant phenotype. Treatment was mainly suggested for patients with moderate or severe movement disorders. Walking, observations of the arms, and drawing a spiral were found to be the most informative tasks and were included in the screening tool. Conclusions: We designed a screening tool to recognize movement disorders in patients with IEMs. We propose that this screening tool can contribute to select patients who should be referred to a movement disorder specialist for further evaluation and, if necessary, treatment of the movement disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Background: Tics describe a wide range of sudden and repetitive behaviors. Their multifaceted clinical features may resemble other explosive behaviors, including repetitive episodes of aggression toward others (allo‐aggression) reported by subjects without tics. Here, we document 3 exemplary cases that help disentangle allo‐aggressive behaviors from tics. Cases: We report 3 cases who presented with an array of complex repetitive behaviors, most notably allo‐aggression (eg, sudden kicking, hitting, slapping and biting others, or pushing someone off a bike), which were misdiagnosed as primary tics. In all cases, additional symptoms, such as blackouts, feeling of being controlled by different personalities, or being empowered by repetitive behaviors, and examination pointed toward different neuropsychiatric diagnoses. Conclusions: Repetitive allo‐aggressive behaviors are not part of the range of motor manifestations of tics. This observation not only has important medico‐legal implications but is also relevant for the overall perception of Tourette syndrome and other primary tic disorders. [ABSTRACT FROM AUTHOR]

Abstract: Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement. Methods: Observational study with a cohort of 14 PKD patients and genetic testing for PRRT2 mutations. Results: In a series of 14 PKD patients seen in our clinic at the National Hospital of Neurology, Queen Square, from 2012–2017, we noted tics in 11 patients (79%), which stand in stark contrast to the estimated lifetime prevalence of tics estimated to reach 1%. Conclusions: The two reasons to point out this possible association are the clinical implications and the potential opportunity of a better understanding of shared pathophysiological mechanisms of neuronal hyperexcitability. [ABSTRACT FROM AUTHOR]

Objective To assess the specificity of cortical inhibitory deficits in cervical dystonia patients. Methods A systematic test battery was developed to assess spatial and temporal aspects of cortical inhibition, in motor and somatosensory systems of the hand. We tested 17 cervical dystonia (CD) patients and 19 controls assessing somatosensory spatial inhibition (grating orientation test, interdigital feedforward subliminal inhibition), somatosensory temporal inhibition (temporal discrimination threshold, feedforward subliminal inhibition), motor spatial inhibition (surround inhibition), and motor temporal inhibition (short interval intracortical inhibition). Results A significant deficit in CD was observed in both measures of somatosensory spatial inhibition, with a trend in the same direction in our measure of motor spatial inhibition. We found no significant group differences in temporal inhibition measures. Importantly, statistical comparison of effect sizes across the different measures showed that deficits in tests of spatial inhibition were greater than those in tests of temporal inhibition. Conclusion Our results suggest that CD is associated with abnormal function of local inhibitory cortical circuits subserving spatial sensory processing. Importantly, this abnormality relates to the somatotopic representation of an unaffected body part. Significance These results clarify the nature of deficits in cortical inhibitory function in dystonia. [ABSTRACT FROM AUTHOR]

Background Obsessional slowness (OS) denotes a rare condition of disablingly slow motor performance. It was originally described in patients with obsessive-compulsive disorder as a 'primary' condition; however, subsequent reports have included heterogeneous clinical populations. We wished to reassess patients with this diagnosis at our own institution and also revisit the literature to provide an overview of this condition. Methods Clinical documentation and videos of 3 patients diagnosed with OS in the National Hospital for Neurology and Neurosurgery (London, UK) were reviewed. One of the patients was clinically reappraised. A systematic review of published articles with sufficient clinical patient information was also conducted. Results Our 3 cases were male with symptom onset in adolescence or early adulthood. Motor slowness with poverty of movement and a history of obsessive-compulsive symptoms were characteristic. Poor speech production, bizarre postures, mannerisms, echophenomena, and oculogyric tics were also noted. Dopaminergic imaging was normal in 2 cases. One case had autistic features. Systematic literature review identified 77 further cases. Male preponderance with symptom onset mainly during the second decade and presence of obsessive-compulsive symptoms were noted. Additional motor and neuropsychiatric features were often present. Conclusion The existence of OS as a 'primary' condition is doubtful. This diagnosis has been given to characterize different clinical presentations ranging from obsessive-compulsive disorder with motor slowness resulting from covert obsessive-compulsive symptoms to catatonia. Clinicians should be aware of this syndrome to separate it from juvenile parkinsonism and other causes of motor slowness given that diagnostic approaches and treatment strategies differ. [ABSTRACT FROM AUTHOR]

Tics in Gilles de la Tourette syndrome (GTS) resemble fragments of normal motor behaviour but appear in an intrusive, repetitive and context-inappropriate manner. Although tics can be voluntarily inhibited on demand , the neural correlates of this process remain unclear. 14 GTS adults without relevant comorbidities participated in this study. First, tic severity and voluntary tic inhibitory capacity were evaluated outside the scanner. Second, patients were examined with resting state functional magnetic resonance imaging (RS-fMRI) in two states, free ticcing and voluntary tic inhibition. Local synchronization of spontaneous fMRI-signal was analysed with regional homogeneity (ReHo) and differences between both states (free ticcing

Abstract: Background: The diagnosis of psychogenic paroxysmal movement disorders (PPMD) can be challenging, in particular their distinction from the primary paroxysmal dyskinesias (PxD) remains difficult. Methods: Here we present a large series of 26 PPMD cases, describe their characteristics, contrast them with primary PxD and focus on their distinguishing diagnostic features. Results: Mean age at onset was 38.6 years, i.e. much later than primary PxD. Women were predominantly affected (73%). Most subjects (88.4%) had long attacks, and unlike primary PxD there was a very high within-subject variability for attack phenomenology, duration and frequency. Dystonia was the most common single movement disorder presentation, but 69.2% of the patients had mixed or complex PxD. In 50% of PPMD cases attack triggers could be identified but these were unusual for primary PxD. 42.3% of patients employed unusual strategies to alleviate or stop the attacks. Response to typical medication used for primary PxD was poor. Precipitation of the disorder due to physical or emotional life events and stressors were documented in 57.6% and 65.3% of the cases respectively. Additional interictal psychogenic signs were documented in 34.6% and further medically unexplained somatic symptoms were present in 50% of the cases. 19.2% of patients had a comorbid organic movement disorder and 26.9% had pre-existing psychiatric comorbidities. Conclusion: Although the phenotypic presentation of PPMD can be highly diverse, certain clinical characteristics help in distinguishing this condition from the primary forms of PxD. Recognition is important as multidisciplinary treatment approaches led to significant improvement in most cases. [Copyright &y& Elsevier]

Background: Atypical parkinsonian conditions such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS) and Dementia with Lewy bodies (DLB) comprise 10-15% of parkinsonian syndromes. Misdiagnosis with Parkinson disease (PD) and within the entities is common, given the absence of reliable biomarkers. However a correct diagnosis is not only important in clinical practice, but also crucial for any trial attempting to identify biomarkers or new treatments.Methods: Consecutive patients, who were referred to our tertiary center with a diagnosis of a particular AP were included and the medical records were reviewed retrospectively. We applied each set of current diagnostic research criteria to the respective cohort to see which features fit in and if there are any additional atypical features "outside" the classic definition.Results: Sixty-nine patients were recruited between January 2013 and May 2015 clinically presenting with one of the following phenotypes: 14 MSA, 24 PSP, 19 CBS and 12 DLB. Up to 49% showed additional "atypical" features and approximately 10% eventually received an alternative diagnosis, in half of whom this being based on genetic testing.Conclusions: In a subset of our patients, despite the final diagnosis of an AP being maintained, there were additional "atypical" features. It remains to be seen if these reflect the clinical heterogeneity of APs, or should prompt a search for an alternative diagnosis. The search for biomarkers is more likely to be successful in homogenous groups of "typical" patients, hence the importance of recognizing "atypical" features. [ABSTRACT FROM AUTHOR]