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A 6-month-old girl presented to hospital via ambulance with a decreased conscious level (initial Glasgow Coma Scale of 3) and an abnormal breathing pattern described as diaphragmatic flutter. She then developed abnormal movements and continued to have episodes of fluctuating conscious levels so was transferred to a tertiary hospital paediatric intensive care unit for further investigation. During her 16-day stay in hospital, she continued to experience discrete episodes of drowsiness, bradycardia, unusual breathing patterns and abnormal movements which were associated with agitation, tachycardia, hypertension and insomnia. The patient underwent extensive investigation for her symptoms and, after some delay in waiting for initial results before considering a urine drug screen, she was ultimately found to have lisdexamfetamine and clonidine in her urine drug screen. Her symptoms subsequently resolved after her mother’s visits were restricted.

Background Kernicterus Spectrum Disorders (KSDs) result from hyperbilirubinemia-induced brain injury. We developed a Toolkit (KSD-TK) to predict the likelihood of KSDs. This study aims to validate the KSD-TK by comparing it to clinical diagnoses made by the Kernicterus Clinic in the Division of Neurology. Methods Through retrospective chart review, we completed a KSD-TK for 37 patients evaluated between 2011 and 2019 using highest bilirubin, newborn risk factors, neonatal exam, follow-up exam, auditory testing, tooth enamel, and MRI brain results. KSD-TK results were compared to the clinical diagnoses given by a kernicterus expert (SS). Results Of 37 patients, 29 were clinically diagnosed with kernicterus, including 14/14 with KSD-TK scored as "definite", 14/15 "probable", and 1/2 with "possible" kernicterus. None of 6 patients with KSD-TK "not kernicterus" were clinically diagnosed with kernicterus. Combining KSD-TK "definite" and "probable", the KSD-TK has 96.6% sensitivity and 87.5% specificity. Each KSD-TK component had high sensitivity, but only three had specificity ≥0.75: auditory neuropathy spectrum disorder, abnormal movements and/or tone on follow-up exam, and abnormal globus pallidus and/or subthalamic nucleus on MRI. Conclusion The KSD-TK is a promising screening tool for patients at risk for kernicterus. Impact This study provides validation of a Kernicterus Spectrum Disorders (KSDs) Toolkit. The toolkit provides screening criteria for predicting KSD diagnosis. Scores of definite or probable have high sensitivity and specificity for KSDs. Abnormal auditory processing, exam, and MRI were most specific for KSDs.

Background We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders. Methods An online survey was administered to caregivers of individuals diagnosed with GNAO1 pathogenic variants. Results Eighty-two surveys were completed. Nearly all (99%) reported the first symptom of concern by age one year with the most frequently identified concerns as hypotonia (68%), developmental delay (67%), seizures (29%), difficulty feeding (23%), and abnormal movements (20%). All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy (52%), although 33% reported both. The onset of seizures tended to be earlier than abnormal movements. Nearly half (48%) of those with any seizures, reported they were no longer having recurrent seizures. No single most effective medication for movement disorders or epilepsy was noted. Ten participants have had deep brain stimulator for their movement disorder, and all indicated positive effects. Conclusions GNAO1-related neurodevelopmental disorders most often present within the first year of life with nonspecific symptoms of hypotonia or developmental delay. Although associated epilepsy and movement disorders can be severe, GNAO1-associated epilepsy may not always be medically refractory or lifelong.

Dystonia is a hyperkinetic movement disorder characterised by sustained or intermittent muscle contractions causing abnormal movements, postures or both. Dystonia is a challenging condition to diagnose and treat. Dystonia is often under-recognised in children, particularly in cerebral palsy, and frequently coexists with spasticity. This guide aims to simplify the approach to diagnosis, investigation and treatment of childhood-onset dystonia. The principle of treatment is similar regardless of the underlying aetiology: identification of potential triggers and consideration of both pharmacological and surgical options.

The paper considers the condition of emotional and behavioral responses on growth and development of 40-days F2 rats, while weaning them from their mothers, by the exposure of 10, 20 and 200 mcg Ge / kg b.w. doses of Germanium (Ge) citrate. Behavioral characteristics and emotionality were assessed using an «open-field» test, which is widely used in modern neurophysiological experiment. The results of the studies indicate that the animals, which used to drink Germanium citrate, noted a smaller, overall intensity of locomotion, except for males which were given 10 μg Ge/kg b.w., in relation to control group, which may indicate an increased anxiety of animals in an unusual environment caused by exposure to Germanium citrate. The results of the orienting research reaction, determined by the “hole-to-open” test, indicate that both sexes animals, which were exposed by 10 μg Ge / kg b.w., noted the increasing of their activity. When exposed to 20 μg Ge / kg b.w., a decrease in the above mentioned indicator was observed. During the exposure of the highest dose of Germanium citrate, 200 mcg Ge/kg bw, the females reacted with a slight increase, and males with a decrease in cognitive activity. Therefore, the study of the orientational research activity of animals indicates about dose-depended and inter-sex differences in the level of the «hole» reflex. When exposed by 10 μg Ge/kg b.w., animals of all research groups, except males, noted lower level and duration of grooming, compared with the indices of the intact animals. This cosmetic behavior, as a factor of emotionality, is sensitive to stress and various pharmacological manipulations. As for retioning, this index was higher than control in both sexes animals, which were exposed with 20 and 200 μg Ge/kg b. w., except the animals which were given the lowest concentration (10 μg Ge/kg b.w.) Ge citrate. The results of the clambing study, as another test of the rat's motor and research activity, indicate that females of all study groups and males, when they were exposed to 10 and 200 μg Ge/kg b. w., observed the higher its level, than that of the intact animals. Therefore, in most animals the use of Germanium citrate results the higher level of vertical activity. When using different doses of Germanium citrate, in females less or equal to the control number of boluses were noted, but males observed quite noticeable increase of this index which was although statistically incredible. A high level of bowel movements indicates an excessively high emotionality of the animal. During testing no abnormal movements were observed in both sexes animals, and both control and experimental groups.

A 24-year-old woman sought care for 2 weeks of disorientation and short-term memory difficulties, as well as diffuse tremor of all extremities. She returned with further decline in memory and new severe headaches. She had intermittent agitation and emotional outbursts of crying or laughing, insomnia, spells consisting of disorganized speech and episodes of intermittent right gaze deviation with facial twitching and lip smacking. She was nearly mute. Her appetite had decreased and she had not had a bowel movement in several days. She was noted to have significant tachycardia and was intermittently febrile. Within several days she became unresponsive to all external stimuli, with nonpurposeful eye movements and frequent dyskinesias observed, and ultimately required ventilator support. Testing of the cerebrospinal fluid showed 236 white blood cells/µL, mildly increased protein concentration of 50 mg/dL, and normal glucose values. Electroencephalography initially demonstrated generalized slowing and generalized periodic epileptiform discharges and was also notable for an extreme delta brush pattern. Bilateral ovarian masses were identified on pelvic ultrasonography, and subsequent computed tomography of the abdomen and pelvis showed bilateral teratomas. An autoimmune encephalitis autoantibody panel was positive for antibodies targeting the N-methyl-d-aspartate receptor in the serum and cerebrospinal fluid, by both cell-based and immunofluorescence assays. The patient was diagnosed with anti- N-methyl-d-aspartate receptor encephalitis. The patient initially received intravenous methylprednisolone, followed by intravenous immunoglobulin. Benzodiazepines and propranolol were used to manage agitation and dysautonomia. Antiepileptic drugs were initiated for seizures. She required mechanical ventilation and parenteral nutrition given her persistent profound encephalopathic state. She underwent left ovarian cystectomy and right salpingo-oophorectomy. This patient’s history highlights the progressive clinical features characteristic of anti- N-methyl-d-aspartate receptor encephalitis and the long but often complete or near-complete recovery.

A 55-year-old woman presented with a history of abnormal intermittent tongue movements for the past 15 days (Video 1). These movements were happening frequently and lasting for about 1 to 2 minutes, not associated with any abnormal movements in other body parts. Her neurologic examination results were normal. Lingual seizure was considered a possible diagnosis.

A 10.5-year-old girl presented with abnormal movements and behavioural problems for three months. initially she had lip-twitching and eye-blinking during wakefulness. After six weeks, she started having shoulder-shrugs, neck-turning, throat-clearing at a frequency of 10-20/hour, exacerbated by stress. In addition, she exhibited temper-tantrums, unprovoked crying and scholastic deterioration.

Objective: The objective of the study was to develop an automatic quantitative approach to identify infants with abnormal movements of the limbs at term equivalent age (TEA) compared with general movement assessment (GMA).Methods: GMA was performed at TEA by a trained operator in neonates with neurological risk. GMs were classified as normal (N) or abnormal (Ab), which included poor repertoire and cramped synchronized movements. The signals from four micro-accelerometers placed on all limbs were recorded for 10 min simultaneously. A global index (KC_index), quantifying the characteristics of individual limb movements and the coordination among the limbs, was obtained by adding normalized kurtosis of the distribution of the first principal component of the acceleration signals to the cross-correlation of the jerk for the upper and lower limbs.Results: Sixty-eight infants were studied. A KC_index cut-off of 201.5 (95% CI: 199.9–205.0) provided specificity = 0.86 and sensitivity = 0.88 in identifying infants with Ab movements.Conclusions: KC_index provides an automatic and quantitative measure that may allow the identification of infants who require further neurological evaluation.

Anterior cruciate ligament (ACL) injury is one of the most common injuries of the knee joint and is becoming more prevalent. While ACL reconstruction is considered the “gold standard” of treatment, some studies have demonstrated natural spontaneous healing of the ACL in humans, rabbits, and rats. At this time, the mechanism of ACL healing is poorly understood. The purpose of this study was to determine the process of ACL healing by examining the molecular and histological changes in the acute phases, using an ACL-Transection model and a spontaneous ACL healing model. Sixty adult male Wistar rats were randomly assigned to two groups: the ACL transection (ACLT) group and the controlled abnormal movement (CAM) group. Thirty rats were randomly assigned to three groups (day 1, day 3, and day 5). Then, all rats underwent an ACL transection procedure. The CAM group rats underwent controlled abnormal extra-articular tibial translation. Samples were harvested from rats and used for histological and biochemical analyses. Both, the ACLT and the CAM groups exhibited ruptured ACLs. However, in the CAM group, the ends of the proximal remnants were not retracted. Expressions of MMP-3 and PDGF-α increased, and expression of TGF-β1 decreased in the CAM group on day 5 (p

Septopreoptic holoprosencephaly (HPE) is a type of HPE characterized by failure of separation of the septal and preoptic regions. Vascular anomalies associated with septopreoptic HPE include twig-like cerebral vessels and azygos anterior cerebral artery, the latter common to all forms of HPE. Here, we describe an 8-year-old boy presenting with developmental delay and abnormal movements who was found to have septopreoptic HPE associated with persistent trigeminal artery in magnetic resonance neuroimaging. This persistence of fetal trigeminal artery in HPE provides a further understanding of the pathogenesis of HPE.

Tardive dyskinesia (TD) is a bothersome and – at times, disabling – movement disorder associated with exposure to dopamine receptor antagonist medications. On 11 April 2017, valbenazine became the first US FDA-approved medication indicated for the treatment of TD. Valbenazine is a vesicular monoamine transporter 2 (VMAT2) inhibitor that decreases the abnormal movements of TD. The FDA considered valbenazine a breakthrough therapy in 2014 given its underlying mechanism and its importance in addressing an unmet need, as there were no available FDA-approved medications indicated for TD. The advantages of valbenazine include once-daily dosing and a rapid onset of effect within 2 weeks of treatment initiation.

Seizures and movement disorders (MDs) are distinct neurological conditions presenting with abnormal movements. Despite sharing an overlap in phenomenology, these movements have different origins. In order to explore the overlaps and the narrow boundaries between these two conditions, we performed a review of the literature to explore the risk of seizures in MDs. We discussed the mimics and chameleons including MDs that look like seizure (eg, paroxysmal dyskinesia, status dystonicus) and seizures that look like MDs (eg,epilepsia partialis continua, nocturnal frontal lobe epilepsy). Additionally, we examined the therapeutic challenges as well as the anatomical and chemical pathways relevant in the interplay between epilepsy and MDs. Finally, we proposed an algorithm to guide clinicians towards the final diagnosis of conditions characterised by the co-occurrence of MDs and seizures.

The natural exponential potential ( $$C\hbox {e}^{-R/{\lambda _0 }})$$ widely exists at micro/nanoscales; this paper studies the interaction potential between a curved-surface body and an outside particle base on the natural exponential potential. Mathematical derivation proves that the interaction potential can be expressed as a function of curvatures. Then, idealized numerical experiments are designed to verify the accuracy of the curvature-based potential. The driving forces exerted on the particle are discussed and confirmed to be a function of curvatures and the gradient of curvatures, which may explain some abnormal movements at micro/nanoscales.

sThe subthalamic nucleus (STN) projects to the external pallidum (GPe) and internal pallidum (GPi), the relay and output nuclei of the basal ganglia (BG), respectively, and plays an indispensable role in controlling voluntary movements. To elucidate the neural mechanism by which the STN controls GPe/GPi activity and movements, we utilized a chemogenetic method to reversibly suppress the motor subregion of the STN in three macaque monkeys (Macaca fuscata, both sexes) engaged in reaching tasks. Systemic administration of chemogenetic ligands prolonged movement time and increased spike train variability in the GPe/GPi, but only slightly affected firing rate modulations. Across-trial analyses revealed that the irregular discharge activity in the GPe/GPi coincided with prolonged movement time. STN suppression also induced excessive abnormal movements in the contralateral forelimbs, which was preceded by STN and GPe/GPi phasic activity changes. Our results suggest that the STN stabilizes spike trains in the BG and achieves stable movements.

Objectives: To explore and quantify systematically the ocular abnormal movements present in progressive supranuclear palsy (PSP) from the early stages, to assess the ability of this standardized examination in the differential diagnosis of PSP from Parkinson's disease (PD), and to compare in more detail oculomotor disturbances between PSP variants. Methods: Sixty-five consecutive PSP patients with

Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. There are very few published studies on NCL from India, especially in children. Methods: A retrospective study of confirmed patients of NCL diagnosed over a period of 10 years from January 2019 to December 2019. Results: Fifty children had a definitive diagnosis of NCL based on enzymatic studies or genetic testing using next-generation sequencing. Around 15 children were diagnosed to have CLN-1 (ceroid lipofuscinoses, neuronal-1) based on palmitoyl protein thioesterase-1 deficiency; 24 children were diagnosed with CLN2 (ceroid lipofuscinoses, neuronal-2) based on deficient tripeptidyl-peptidase-1 activity; three patients were diagnosed as CLN6, five patients as CLN7, one case each of CLN8, CLN11, and CLN14 based on genetic testing. Clinical presentation was quite varied and included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series. Neuroimaging patterns in different types of NCL were different. All children had a progressive downhill course resulting in death in many over a period of 5–10 years of disease onset. Conclusion: NCL is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings. Diagnosis can be confirmed by enzymatic assays or genetic testing.

Seizure liability remains a significant cause of attrition in drug discovery and development, leading to loss of competitiveness, delays, and increased costs. Current detection methods rely on observations made in in vivo studies intended to support clinical trials, such as tremors or other abnormal movements. These signs could be missed or misinterpreted; thus, definitive confirmation of drug-induced seizure requires a follow-up electroencephalogram study. There has been progress in in vivo detection of seizure using automated video systems that record and analyze animal movements. Nonetheless, it would be preferable to have earlier prediction of seizurogenic risk that could be used to eliminate liabilities early in discovery while there are options for medicinal chemists making potential new drugs. Attrition due to cardiac adverse events has benefited from routine early screening; could we reduce attrition due to seizure using a similar approach? Specifically, microelectrode arrays could be used to detect potential seizurogenic signals in stem-cell-derived neurons. In addition, there is clear evidence implicating neuronal voltage-gated and ligand-gated ion channels, GPCRs and transporters in seizure. Interactions with surrounding glial cells during states of stress or inflammation can also modulate ion channel function in neurons, adding to the challenge of seizure prediction. It is timely to evaluate the opportunity to develop an in vitro assessment of seizure linked to a panel of ion channel assays that predict seizure, with the aim of influencing structure-activity relationship at the design stage and eliminating compounds predicted to be associated with pro-seizurogenic state.

Objetivo: analizar las variables demográficas y diagnósticas que condicionan la demanda asistencial ambulatoria de la consulta neurológica privada por primera vez. Métodos: estudio observacional, descriptivo, retrospectivo, de la demanda de consultas ambulatorias de primera vez en un centro neurológico privado, durante 24 meses (enero-2016 hasta diciembre-2017). La información médica fue obtenida a partir de registros clínicos computarizados registrándose: edad, género y diagnóstico según la Clasificación Internacional de Enfermedades, 10 edición (CIE-10). Resultados: el total de pacientes del estudio fue de 2 372, (60%) fueron mujeres. La edad media fue de 42,6 años ± 18,8 años, (42,20%) son mayores de 65 años. El diagnóstico más frecuente fue cefalea primaria (33,4%); seguido por epilepsia (14%); cervicalgia, dorsalgia y lumbalgia (13,2%), trastornos psiquiátricos (6,5%). En mayores de 65 años el deterioro cognitivo fue el diagnóstico más frecuente (14,68%), seguido de movimientos anormales. Conclusión: Los pacientes neurológicos son predominantemente menores de 65 años y de sexo femenino. La patología más frecuente fue la cefalea primaria.

A 2-week-old male infant was referred to the emergency department (ED) by his pediatrician because of abnormal movements. ### Prenatal and Birth Histories ### Presentation The infant began having abnormal movements at 14 days of age that were described by his parents as episodes of rightward deviation of the head and eyes, as well as right arm and leg jerking that lasted for 20 seconds and occurred every few hours. Between events, the infant acted appropriately and was feeding well, with good urine output. Overnight, the parents thought that he was fussy and had …

A 45-year-old right-handed hypertensive man presented with a 6-month history of worsening neuropsychiatric symptoms, abnormal movements, and weight loss. He was hallucinating, apathetic, and having severe insomnia (total sleep duration of 1–2 hours/night). During sleep, his wife noted labored and sonorous breathing. Six months before admission, he led a healthy and active lifestyle.

Background Functional motor disorders encompass a variety of manifestations characterized by abnormal movements that are clinically incongruent with those known to be caused by neurological diseases. Cases We report 2 cases in which functional motor disorders developed after complete recovery of motor symptoms originating from underlying vascular brain lesions. The first case describes a young woman who developed a motor and sensory hemisyndrome after surgical removal of a postrolandic cavernoma. The second describes a 16-year-old girl who presented with a mixed component tremor after ventricular derivation and endovascular embolization for rupture of a brainstem arteriovenous malformation. Conclusion Motor symptoms and signs attributed to an underlying lesion may trigger "pure" functional motor disorders. In such cases, the differential diagnosis may be even more challenging. However, diagnosis of a functional rather than a defined structural disorder can be achieved by a "positive diagnostic process," considering the findings of internal inconsistency and incongruity.

Spiral drawing has been utilized for years as a clinical tool to observe tremors and other abnormal movements in the assessment of different movement disorders. Specifically, in Parkinson's Disease (PD), patients' motor functionalities are measured by various tests, and spiral drawing is one of the proven techniques for assessing the severity of PD motor symptoms. Traditionally, this test is performed on pen and paper, and visually assessed by a clinician. There have been successful efforts for digitizing this test on tablets. Here, we describe a smartphone-based digitized version of the spiral drawing test. Moreover, we introduce a square-shaped drawing to solve an identified challenge of a smaller screen estate: finger occlusion while drawing. Both approaches are evaluated with 8 Parkinson's Disease patients and 6 age-matching control participants. Based on earlier studies and our data, we select suitable motion parameters for quantifying the task. Our results show an observable, statistically difference in performance between users with Parkinson's Disease and the control group in drawing accuracy.

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados. Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

Seizure-like movements after general anesthesia is not common, but it sometimes happens. However, abnormal movements following general anesthesia may be difficult to differentiate because it is difficult to find out the exact cause of these seizure-like movements. These cases can occur at any stage (during induction of anesthesia and emergence from anesthesia and early and late recovery of anesthesia). This is a rare case of seizure-like movement after tonsillectomy under general anesthesia.

The history of botulinum toxin dates back to 1817 when it was described by Justinus Kerner, who associated the deaths by intoxication from a poison encountered in smoked sausages with alterations in the excitability of the motor and autonomic nervous system (Dressler et al. Arq Neuropsiquiatr 63:180–185, 2005). In 1895, Emile Van Ermengem discovered the bacterial agent and its mechanism of action. In 1978, Alan Scot performed the first tests with botulinum toxin A injected in human beings for the treatment of strabismus, and later, its use was described for the treatment of segmental dystonias, tremors, and other abnormal movements (Silberstein, Pain Pract 4:S19–26, 2004). It was subsequent to the observation of improvement in wrinkles in patients treated for blepharospasm that the Canadian couple Jean and Alastair Carruthers described the cosmetic use of the toxin in 1987 (Wenzel, Am J Heath-Syst Pharm 61:s5–10, 2004, Setler, Clin J Pain 18:s119–124, 2002, Unno et al. Rev Bras Anestesiol 55:250–255, 2005).

A major problem in treating Parkinson's disease is that up to 80% of patients will develop levodopa-induced dyskinesias (LIDs). These abnormal involuntary movements result in difficulty in controlling movements and contribute to further disability in Parkinson's disease. Despite the long history of levodopa as the leading therapy, it remains unknown how these abnormal movements develop. In this chapter, we review the pathophysiology of LIDs including recent work implicating different neuronal populations in the striatum.

Highlights • A 6 year old girl with progressive speech difficulties, new abnormal movements, olfactory hallucinations • Choreiform movement of her right hemibody along with her face and tongue • Seizures were noted during sleep without clinical correlate, progressing to awake subclinical seizures