Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.

Background: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in TMEM240. A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease. Case Series: We describe two newly identified families harboring the recurrent pathogenic TMEM240 p.Pro170Leu variant. Both index patients and the mother of the first proband developed movement disorders, manifesting as myoclonic dystonia and action-induced dystonia without co-occurring ataxia in one case, and pancerebellar syndrome complicated by action-induced dystonia in the other. We reviewed the literature on TMEM240 variants linked to hyperkinetic disorders, comparing our cases to described phenotypes. Discussion: Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21. TMEM240 mutation should be included in the differential diagnosis of myoclonic dystonia and ataxia-dystonia syndromes.

Generation of an induced pluripotent stem cell line GWCMCi006-A from a patient with autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures harboring GRIN1 c.389A > G mutation.

Autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (NDHMSD) is a rare neurological disorder characterized by neurodevelopmental disorder and hyperkinetic movement, with or without seizures. Heterozygous mutation in the GRIN1 encoding the subunit 1 of the N-methyl-D-aspartate receptor caused this disorder. We first established an induced pluripotent stem cell (iPSC) line from a male patient with c.389A > G mutation in the GRIN1, via reprogramming with KLF4, SOX2, OCT3/4, and c-MYC. Through identification examination, the iPSCs (GWCMCi006-A) stably expressed pluripotency-associated stem cell markers, maintained a normal karyotype, and showed proliferative potential for three-germ layers differentiation.

Effects of Selected Cognitive-Motor Intervention on the Level of Physical Literacy and Executive Functionsin Attention deficit/hyperactivity disorder Girls: A One-month Follow-up Study / Efectos de la Intervención Cognitiva-Motora Seleccionada Sobre el Nivel de Literacia Física y Las Funciones Ejecutivas en Niñas con Trastorno por Déficit de Atención e Hiperactividad: Un Estudio de Seguimiento de un Mes / Efeitos da Intervenção Cognitivo-Motora Selecionada sobre o Nível de Literacia Física e Funções Executivas de Meninas sobre o Transtorno de Déficit de Atenção/Hiperatividade: Um Estudo de Acompanhamento de Um Mês

The aim of thepresent study was to investigate the effectiveness of selected cognitive-motor intervention on the level of physical literacy (PL) and executive functions of Attention-deficit/hyperactivity disorder (ADHD) girls in a one-month follow-up plan. The statistical population included 30 girls with ADHD, all from Yazd (15 participants per group, experimental and control) were selected based on DSM-V criteria. While the control group was not exposed to any treatment andjust continued working as usual, the experimental group participated in 18 sessions (3 sessions a week) of the cognitive-motor program. In order to evaluate PL, the Canadian Assessment of Physical Literacy Second Edition (CAPL-2), and for executive function the Continuous Performance Test (sustained attention) and Computer Mapping of the Tower of London task (motion planning) were used. Data analysis wa also conducted using the mixed varianceanalysis test with repeated measures and an independent T-test at a significance level of p≤.05. According to the results, the experimental group had better performance in PL and executive functions (sustained attention and movement planning) in the posttest and follow-up than the pretest. But, in the control group, no significant difference was observed between the test stages. Moreover, comparing the groups, the experimental group had better performance than the control group in PL, sustained attention, and movement planning. Therefore, cognitive-motor intervention can be used to develop PL and executive functions of ADHD girls.(AU)

El objetivo del estudio fueinvestigar la efectividad de una intervención cognitiva-motora seleccionada en el nivel de la Literacia Física (PL) y funciones ejecutivas de niñas contrastorno por déficit de atención e hiperactividad (TDAH) en un plan de seguimiento de un mes. La población eran niñas con TDAH, de Yazd, 15 participantes por grupo, experimental y control, fueron seleccionadas según los criterios del DSM-V. Mientras que el grupo de control no estuvo expuesto a ningún tratamiento y siguió trabajando como de costumbre, el grupo experimental participó en 18 sesiones del programa cognitivo-motor. (3 sesiones/sem). Para evaluar la PL se utilizó Canadian Assessment of Physical Literacy Second Edition (CAPL-2), y para la función ejecutiva el Continuous Performance Test (atenciónsostenida) y la tarea Computer Mapping of the Tower of London (planificación motora). Un análisis de varianza mixta con medida repetida y una prueba T independiente fue realizada a un nivel de significancia de p≤.05. De acuerdo con los resultados, el grupoexperimental tuvo mejor desempeño en PL y funciones ejecutivas (atención sostenida y planificación motora) en el posprueba y seguimiento que en la prueba previa. Pero, en el grupo de control, no se observó diferencia significativa entre las etapas de laprueba. Al comparar los grupos, se demostró que el grupo experimental tuvo un mejor desempeño que el grupo de control en PL, atención sostenida y planificación motora. Por lo tanto, la intervención cognitivo-motora se puede utilizar para desarrollar la PL y las funciones ejecutivas de las niñas con TDAH.(AU)

O objetivo do presente estudo foi investigar a eficácia da intervenção cognitivo-motora selecionada no nível de Literacia Física (PL) e funções executivas de meninas com transtorno de déficit de atenção/hiperatividade (TDAH) com um plano de acompanhamento de um mês. A população foi composta por 30 meninas meninas com TDAH, todas de Yazd, as quais (15 participantes por grupo, experimental e controlo) foram selecionadas com base nos critérios do DSM-V. Enquanto o grupo controlo não foi exposto a nenhum tratamento e apenas continuou trabalhando normalmente, o grupo experimental participou de 18 sessões do programa cognitivo-motor (3 sessões/semena). Para avaliar a PL, foi utilizado o Canadian Assessment of Physical Literacy Second Edition (CAPL-2), e para a função executiva o Continuous Performance Test (atenção sustentada) e a tarefa de Computer Mapping of the Tower of London (planeamentomotor). A análise dos dados também foi realizada por meio do teste de análise de variância mista com medida repetida e um t test de amsotras independentescom nível designificância p≤.05. De acordo com os resultados, o grupo experimental demonstrou melhor desempenho em PL e funções executivas (atenção sustentada e planeamento motor) no pós-teste do que no pré-teste. Já no grupo controlo não frami observadasdiferenças significativas entre as etapas do teste. A comparação dos grupos evidenciou que o grupoexperimental teve melhor desempenho do que o grupo controlo na alfabetização física, atenção sustentada e planeamento motor. Portanto, a intervenção cognitivo-motora pode ser usada para desenvolver a PL e as funções executivas de meninas com TDAH.(AU)

Teaching Video NeuroImage: Isolated Undulating Tongue Hyperkinesia Following a Basilar Stroke.

An 82-year-old man with a history of hypertension and coronary revascularization presented with sudden-onset right hemiparesis and disorientation lasting 5 hours. On admission, he was intubated because of gasping and a Glasgow Coma Scale of 3. Hemorrhagic stroke was suspected, but ruled out by the initial head CT, which revealed old cerebellar lacunae. The following day, the comatose, now unsedated patient exhibited tetraparesis; fixed, nonreactive pupils; and corneal reflex, but no oculocephalic reflex. Rhythmic undulating tongue movements without palatal or limb involvement were first observed (Video 1). EEG revealed no epileptiform activity. Follow-up head CT showed acute ischemic lesions in the thalamocapsular region, midbrain, and pons while angiotomography revealed distal basilar artery occlusion (Figure). Involuntary tongue movements, though rare, have been associated with various conditions such as stroke, trauma, and epilepsy.1,2 These movements may result from disinhibition within the inhibitory reticular formation projecting to hypoglossal neurons, suggesting the pontine reticular formation as a central pacemaker.2.

[A case of a pathological variant of the PRRT2 gene in twins with paroxysmal kinesiogenic dyskinesia]. / Sluchai patologicheskogo varianta gena PRRT2 u bliznetsov s paroksizmal'noi kineziogennoi diskineziei.

Paroxysmal dyskinesia is a clinically and etiologically polymorphic group of diseases, the main clinical manifestation of which is transient attacks of extrapyramidal movements, with different conditions of occurrence. Paroxysmal kinesigenic dyskinesia belongs to the group of primary dyskinesias, which also includes paroxysmal non-kinesigenic dyskinesia and exercise-induced paroxysmal dyskinesia. The most common cause of paroxysmal kinesiogenic dyskinesia is mutations in the PRRT2 gene; in cases of non-kinesiogenic dyskinesia, a mutation in the MR1 gene is detected. The diagnosis of primary dyskinesias causes significant difficulty for clinicians due to the rarity of occurrence, as well as the large spectrum of conditions occurring with paroxysmal motor disorders in childhood. The article describes the clinical observation of 16-year-old twin brothers with transient attacks of dystonic, choreic and ballistic hyperkinesis that suddenly arose during movement. Patients were treated for tics and epilepsy for 12 years. Taking into account the clinical picture - transient attacks of hyperkinesis, their connection with movement, as well as data from video-electroencephalographic monitoring, a diagnosis of paroxysmal kinesiogenic dyskinesia was established, which in a further diagnostic search was confirmed by targeted sequencing of the pathological variant of the PRRT2 gene previously described in patients with kinesiogenic dyskinesia. The administration of carbamazepine, which is the drug of choice in the treatment of this category of patients, has achieved significant control over hyperkinesis in twins. Thus, molecular genetic diagnosis helps confirm the diagnosis of paroxysmal dyskinesias, but careful analysis of the clinical picture, considering the provoking factor, remains the basis of diagnosis.

Clinical Reasoning: A 3-Year-Old Boy With Abnormal Movements During Sleep.

We report a case of a 3-year-old boy who presented with abnormal movements that initially occurred only during sleep. Three years later, he went on to develop hyperkinetic movements during the daytime while awake. There was a strong family history of various paroxysmal neurologic disorders. In this report, we discuss the clinical approach, differential diagnosis, investigation, and treatment options for nocturnal hyperkinetic movements and paroxysmal movement disorders.

Schistosoma mansoni excretory-secretory products induce protein kinase signalling, hyperkinesia, and stem cell proliferation in the opposite sex.

Adult male and female schistosomes in copula dwell within human blood vessels and lay eggs that cause the major Neglected Tropical Disease human schistosomiasis. How males and females communicate to each other is poorly understood; however, male-female physical interaction is known to be important. Here, we investigate whether excretory-secretory products (ESPs), released into the external milieu by mature Schistosoma mansoni, might induce responses in the opposite sex. We demonstrate that ESPs adhere to the surface of opposite sex worms inducing the activation of extracellular signal-regulated kinase (ERK) and p38 mitogen-activated protein kinase (p38 MAPK) pathways, particularly in the parasite tegument. Furthermore, we show that mature worms stimulated signalling in juvenile worms. Strikingly, we demonstrate that ESPs from the opposite sex promote stem cell proliferation, in an ERK- and p38 MAPK-dependent manner, in the tegument and within the testes of males, and the ovaries and vitellaria of females. Hyperkinesia also occurs following opposite sex ESP exposure. Our findings support the hypothesis that male and female schistosomes may communicate over distance to modulate key processes underlying worm development and disease progression, opening unique avenues for schistosomiasis control.

Neurectomía selectiva del nervio facial en el tratamiento de la hipercinesia contralateral en parálisis facial / Selective neurectomy of the facial nerve in the treatment of contralateral hyperkinesia in facial paralysis

Introducción y objetivo: En el abordaje clínico de la parálisis facial periférica existen opciones terapéuticas enfocadas a restaurar la función motora facial, como son las cirugías estáticas y dinámicas; sin embargo, la asimetría facial es un problema persistente. La neurectomía selectiva del nervio facial (NSNF) es una cirugía utilizada recientemente para el manejo de las sincinesias e hipercinesias producidas como secuela en parálisis facial. El objetivo del presente trabajo es analizar los resultados en la mejoría de la asimetría facial de nuestros pacientes sometidos a NSNF para el tratamiento de la hipercinesia contralateral de la parálisis facial mediante la implementación de la escala Sunnybrook Facial Grading Scale (SFGS). Material y método: Estudio prospectivo observacional descriptivo analizando una muestra de 100 pacientes con diagnóstico de parálisis facial periférica atendidos en el Hospital de San José, Bogotá, Colombia. Describimos variables demográficas, y una vez identificados los pacientes sometidos a NSNF, utilizamos la historia clínica para hacer la estadificación de la escala descrita y comparamos los resultados en el pre y postoperatorio. Describimos también la técnica quirúrgica utilizada. Resultados: Evidenciamos una diferencia en la puntuación de la escala SFGS dada por un incremento en la puntuación en 4 pacientes sometidos al procedimiento, con diferencias estadísticamente significativas. Conclusiones: En nuestra experiencia, La NSNF es útil en el manejo de la asimetría facial persistente como secuela de parálisis facial. Nivel de evidencia científica 4c Terapéutico.(AU)

Background and objective: In the clinical approach of the peripheral facial paralysis there are therapeutic options focused on restoring facial motor function, such as static and dynamic surgeries; however, facial asymmetry is a persistent problem. Selective facial nerve neurectomy (SFNN) is a widely used surgery for the management of synkinesias and hyperkinesias as sequelae of pasalysis. Our objective is to analyze the results in the improvement of facial asymmetry of patients undergoing SFNN for the treatment of contralateral hyperkinesia of facial paralysis through the implementation of the Sunnybrook Facial Grading Scale (SFGS). Methods: A prospective observational descriptive study is designed for a sample of 100 patients diagnosed with peripheral facial paralysis treated at the Hospital de San José, Bogotá, Colombia. Demographic variables were described, and once the patients undergoing SFNN were identified, the clinical history is used to carry out the staging of the scale described and the results are compared in the pre and postoperative period. A description of the surgical technique used was made. Results: A difference in the SFGS scale classification score was identified due to an increase in the score in the postoperative period of 4 patients that were treated with SFNN with statistically significant differences. Conclusions: In our experience, SFNN is useful in the management of persistent facial asymmetry as a consequence of facial palsy.Level of evidence 4c Terapeutic.(AU)

Social cognition in hyperkinetic movement disorders: a systematic review.

Numerous lines of research indicate that our social brain involves a network of cortical and subcortical brain regions that are responsible for sensing and controlling body movements. However, it remains unclear whether movement disorders have a systematic impact on social cognition. To address this question, we conducted a systematic review examining the influence of hyperkinetic movement disorders (including Huntington disease, Tourette syndrome, dystonia, and essential tremor) on social cognition. Following the PRISMA guidelines and registering the protocol in the PROSPERO database (CRD42022327459), we analyzed 50 published studies focusing on theory of mind (ToM), social perception, and empathy. The results from these studies provide evidence of impairments in ToM and social perception in all hyperkinetic movement disorders, particularly during the recognition of negative emotions. Additionally, individuals with Huntington's Disease and Tourette syndrome exhibit empathy disorders. These findings support the functional role of subcortical structures (such as the basal ganglia and cerebellum), which are primarily responsible for movement disorders, in deficits related to social cognition.

Comparison of dyskinesia profiles after L-DOPA dose challenges with or without dopamine agonist coadministration.

Many patients with Parkinson's disease (PD) experiencing l-DOPA-induced dyskinesia (LID) receive adjunct treatment with dopamine agonists, whose functional impact on LID is unknown. We set out to compare temporal and topographic profiles of abnormal involuntary movements (AIMs) after l-DOPA dose challenges including or not the dopamine agonist ropinirole. Twenty-five patients with PD and a history of dyskinesias were sequentially administered either l-DOPA alone (150% of usual morning dose) or an equipotent combination of l-DOPA and ropinirole in random order. Involuntary movements were assessed by two blinded raters prior and every 30 min after drug dosing using the Clinical Dyskinesia Rating Scale (CDRS). A sensor-recording smartphone was secured to the patients' abdomen during the test sessions. The two raters' CDRS scores were highly reliable and concordant with models of hyperkinesia presence and severity trained on accelerometer data. The dyskinesia time curves differed between treatments as the l-DOPA-ropinirole combination resulted in lower peak severity but longer duration of the AIMs compared with l-DOPA alone. At the peak of the AIMs curve (60-120 min), l-DOPA induced a significantly higher total hyperkinesia score, whereas in the end phase (240-270 min), both hyperkinesia and dystonia tended to be more severe after the l-DOPA-ropinirole combination (though reaching statistical significance only for the item, arm dystonia). Our results pave the way for the introduction of a combined l-DOPA-ropinirole challenge test in the early clinical evaluation of antidyskinetic treatments. Furthermore, we propose a machine-learning method to predict CDRS hyperkinesia severity using accelerometer data.

Defining Biliary Hyperkinesia and the Role of Cholecystectomy.

BACKGROUND: Functional gallbladder disorder is most commonly defined by biliary colic and low ejection fraction (EF) on cholescintigraphy. Biliary hyperkinesia is a controversial type of functional gallbladder disorder, and its definition and the role of cholecystectomy in treating functional gallbladder disorder remains unclear. STUDY DESIGN: We conducted a retrospective review of patients who underwent cholecystokinin-stimulated cholescintigraphy and cholecystectomy at 3 Mayo Clinic sites between 2007 and 2020. Eligible patients were 18 years or older, presented with symptoms of biliary disease, had an EF greater than 50%, underwent cholecystectomy, and had no evidence of acute cholecystitis or cholelithiasis on imaging. We used receiver operating characteristics curve analysis to identify the optimal cutoff value that predicted symptom resolution within 30 days of cholecystectomy. RESULTS: A total of 2,929 cholecystokinin-stimulated cholescintigraphy scans were performed during the study period; the average EF was 67.5% and the median EF was 77%. Analyzing those with EFs greater than or equal to 50% yielded 1,596 patients with 141 (8.8%) going on to have cholecystectomy. No significant differences were found in age, sex, BMI, final pathology between patients with and without pain resolution. Using a cutoff EF of 81% was significantly associated with pain resolution after cholecystectomy (78.2% for EF greater than or equal to 81% vs 60.0% for EF less than 81%, p = 0.03). Chronic cholecystitis was found in 61.7% of the patients on final pathology. CONCLUSIONS: We determined that an EF cutoff of 81% is a reasonable upper limit of normal gallbladder EF. Patients with biliary symptoms and an EF greater than 81% but no evidence of biliary disease on ultrasound or scintigraphy can be classified as having biliary hyperkinesia. Based on our findings, we recommend cholecystectomy for this patient population.

[Treatment Methods for Dystonia, Myoclonus, and Chorea].

Abnormal involuntary movement (AIM) are usually classified into hypokinesia and hyperkinesia group. Hyperkinesia-AIM includes myoclonus, chorea, ballism, dystonia, athetosis, and more. Of these, dystonia, myoclonus, and chorea are frequent movement disorders. From a neurophysiological point of view, the mechanism of motor control by the basal ganglia is thought to consist of three pathways: hyperdirect, direct, and indirect. Hyperkinetic-AIMs are likely caused by the dysfunction of any of these three pathways, leading to malfunction in either presurround inhibition, initiation of motor performance, or postsurround inhibition. These dysfunctions are assumed to stem from regions, such as the cerebral cortex, white matter, basal ganglia, brainstem, and cerebellum. Drug therapies that consider the pathogenesis mechanism are desirable. Here, we presented an overview of treatment methods for hyperkinetic-AIMs.

A review on approach to a twitchy tongue in neurology.

BACKGROUND: Several etiologies are responsible for presentation of a twitching tongue in clinical practice. Some of these etiologies cause an isolated hyperkinetic tongue muscle, and some others cause it along with other signs and symptoms. OBJECTIVES: The present paper aims to review the causes, pathology, and presentations reported with twitchy tongue. An anatomical basis of the etiologies responsible for presentation of a twitchy tongue and hyperkinetic movement disorders of this muscle is pursued. METHOD: The reporting of this systematic review was guided by the standards of the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) Statement. All of the research papers conducted with keywords described in the method section between 2000 and 2022 were used, and review articles and articles without any human subject and without any described hyperkinetic movement disorders of the tongue were excluded. RESULTS: All of the etiologies responsible for hyperkinetic movement disorders of tongue were listed in the basis of their anatomical site of effect; cortical region, basal ganglia, cerebellum, brain stem, nucleus and nerve, and neuromuscular junction. One last remained part is the "not classified" section, which contains the etiologies with no particular anatomical origin. CONCLUSION: There are a variety of responsible etiologies for presentation of a twitchy tongue, and in the matter of a complaint of hyperkinetic tongue presentation, physicians should consider anatomical, functional, and psychological etiologies and other signs and symptoms must be participated in the diagnosis process to achieve a proper medical decision.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

BACKGROUND AND OBJECTIVES: Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. METHOD: Following detailed clinical phenotyping, 1 family underwent research whole-genome sequencing (WGS), 1 research whole-exome sequencing, and 2 diagnostic WGS. Variants of interest were assessed for pathogenicity using in silico prediction tools, homology modeling, and, where relevant, sequencing of complementary DNA (cDNA) for splicing effect. RESULTS: In 2 unrelated families of Pakistani origin (1 consanguineous and 1 not), the same homozygous missense variant in SLC30A9 (c.1253G>T, p.Gly418Val) was identified. Family 1 included 2 affected brothers, and family 2 one affected boy. In family 3, also consanguineous, there were 4 affected siblings homozygous for the variant c.1049delCAG, pAla350del. The fourth family was nonconsanguineous: the 1 affected individual was compound heterozygous for c.1083dup, p.Val362Cysfs*5, and c.1413A>G, p.Ser471=. Despite phenotypic variability between the 4 families, all affected patients manifested with a progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis. None had evidence of severe renal impairment. For the novel missense variant, the conformation of the loop domain and packing of transmembrane helices are likely to be disrupted based on structure modeling. Its presence in 2 unrelated Pakistani families suggests a possible founder variant. For the synonymous variant p.Ser471=, an effect on splicing was confirmed through cDNA analysis. DISCUSSION: Pathogenic variants in SLC30A9 cause a progressive autosomal recessive neurologic syndrome associated with a complex hyperkinetic movement disorder. Our report highlights the expanding disease phenotype, which can present with a wider spectrum of severity than has previously been recognized.

The clinical and sleep manifestations in children with FOXG1 syndrome.

FOXG1 syndrome is a rare neurodevelopmental disorder associated with severe cognitive dysfunction, autistic behavior, and early-onset hyperkinetic movement disorders. Patients have also been reported to experience sleep disturbances. However, these findings are mainly based on subjective caregivers' reports, and limited by small case numbers. Moreover, no studies using objective evaluation tools, such as actigraphy, have been reported. We analyzed the clinical and sleep manifestations of children with FOXG1 syndrome registered in the FOXG1 Research Foundation Patient Registry database. A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. The more impaired of language acquisitions (absence of speech, OR: 3.99, 95%CI = 1.69-9.42, p = 0.002), hyperkinetic movement disorders (OR: 2.64, 95%CI = 1.34-5.20 p = 0.005) and feeding difficulties (OR: 2.81, 95% CI = 1.52-5.19, p = 0.001) were significantly associated with an increase in odds of sleep disturbance after adjusting for age, sex, and antiepileptic drugs. We also performed sleep studies on six individuals with FOXG1 syndrome using The Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and 7-day data from Actiwatch. The Pittsburgh Sleep Quality Index (PSQI) and 7-day data from Actiwatch were also used to evaluate the sleep condition of their parents. The CSHQ scores revealed bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night-waking, and parasomnia. Sleep-wake transition disorders and disorders of initiating and maintaining sleep were also suggested by the SDSC scores. The children's actigraphy revealed short sleep durations, impaired sleep efficiency, longer wake after sleep onset, and frequent night-waking. All caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration. Sleep disturbances, especially in initiating and maintaining sleep, are common in individuals with FOXG1 syndrome and their caregivers. Sleep disorders in patients with FOXG1 syndrome and their caregivers should be investigated.

Hyperkinetic movement disorders following SARS-CoV-2 infection and vaccination - an update.

The aim of this review was to summarise current knowledge regarding hyperkinetic movement disorders related to SARS-CoV-2 infection and vaccination in terms of phenomenology, epidemiology, pathogenesis and treatment. After a thorough review of the PubMed and Google Scholar databases (2020-2022), we identified myoclonus and ataxia sometimes accompanied by opsoclonus (AMS) as the two most frequent COVID-19 sequelae, with chorea, tremor and dystonia being very rare. The pathogenesis seems to be variable, but in the majority of AMS cases it was autoimmunological, with good response and recovery after corticosteroids or intravenous immunoglobulins infusions. Vaccination may be complicated by hyperkinetic movement disorders (e.g. tremor, dystonia), but this is very rare. Patients with Deep Brain Simulation depletion should not be postponed due to lockdowns as this may result in fatal outcomes.

[18F]FDG PET in conditions associated with hyperkinetic movement disorders and ataxia: a systematic review.

PURPOSE: To give a comprehensive literature overview of alterations in regional cerebral glucose metabolism, measured using [18F]FDG PET, in conditions associated with hyperkinetic movement disorders and ataxia. In addition, correlations between glucose metabolism and clinical variables as well as the effect of treatment on glucose metabolism are discussed. METHODS: A systematic literature search was performed according to PRISMA guidelines. Studies concerning tremors, tics, dystonia, ataxia, chorea, myoclonus, functional movement disorders, or mixed movement disorders due to autoimmune or metabolic aetiologies were eligible for inclusion. A PubMed search was performed up to November 2021. RESULTS: Of 1240 studies retrieved in the original search, 104 articles were included. Most articles concerned patients with chorea (n = 27), followed by ataxia (n = 25), dystonia (n = 20), tremor (n = 8), metabolic disease (n = 7), myoclonus (n = 6), tics (n = 6), and autoimmune disorders (n = 5). No papers on functional movement disorders were included. Altered glucose metabolism was detected in various brain regions in all movement disorders, with dystonia-related hypermetabolism of the lentiform nuclei and both hyper- and hypometabolism of the cerebellum; pronounced cerebellar hypometabolism in ataxia; and striatal hypometabolism in chorea (dominated by Huntington disease). Correlations between clinical characteristics and glucose metabolism were often described. [18F]FDG PET-showed normalization of metabolic alterations after treatment in tremors, ataxia, and chorea. CONCLUSION: In all conditions with hyperkinetic movement disorders, hypo- or hypermetabolism was found in multiple, partly overlapping brain regions, and clinical characteristics often correlated with glucose metabolism. For some movement disorders, [18F]FDG PET metabolic changes reflected the effect of treatment.