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Objectives: Chorea, characterised by involuntary, irregular movements, is a rare neurological manifestation of antiphospholipid syndrome (APS). The specific clinical features remain unclear. This study aimed to summarise the available evidence on antiphospholipid antibody (aPL)-associated chorea., Methods: We used a mixed-methods approach, combining data from patients with chorea with aPL positivity admitted to Peking Union Medical College Hospital (PUMCH) from 2014 to 2024, with cases identified in public databases since 1983. We collected and analysed clinical, laboratory, and imaging results, along with their treatments and outcomes., Results: A total of 180 patients with incident aPL-associated chorea were included (13 from PUMCH and 167 from the literature). The majority (81.7%) were female, with a mean age of chorea onset 22.8 years (SD=16.0). Chorea was the initial symptom in 87.9% of cases and often occurred as a single episode (67%), involving bilateral limbs (58.8%) and both upper and lower limbs (87.2%). 43.3% met the 2023 American College of Rheumatology (ACR)/European Alliance of Associations for Rheumatology (EULAR) APS classification criteria. Thrombocytopenia (30.0%) and arterial thrombosis (29.1%) were the most common manifestations. Lupus anticoagulant was positive in 84.2% of patients, anticardiolipin IgG in 70.8%, and anti-β2 glycoprotein I IgG in 52.9%. Among those who had results available for the three tests, 57.6% were triple-positive. ANAs were positive in 63.6%. MRI revealed basal ganglia lesions in only 14.8% of patients, whereas all positron emission tomography (PET) scans showed contralateral striatal hypermetabolism. Treatment varied, with most receiving combination therapies of neuroleptics, anticoagulants, antiplatelets, steroids and immunosuppressants. Chorea completely or partially improved in 95.5% of patients., Conclusion: Chorea is a significant but under-recognised manifestation of APS, predominantly affecting young women and often presenting as the initial symptom. Characteristic PET findings of contralateral striatal hypermetabolism can assist in diagnosis. Treatments with glucocorticoids and immunosuppressive therapies appear beneficial. Further research is needed to understand the pathophysiology and optimise management strategies for aPL-associated chorea., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Chorea is a hyperkinetic movement disorder associated with various underlyingconditions, including autoimmune diseases such as antiphospholipid syndrome (APS). APS can manifest with a wide range of neurological symptoms, including chorea. We present a case of a 77-year-old man with subacute generalized chorea secondary to primary APS. Notably, the patient exhibited a left patellar crossed-reflex, a phenomenon rarely documented in chorea cases, the pathophysiology of which has not yet been elucidated. In summary, this case challenges the traditional demographics of antiphospholipid syndrome (APS) by suggesting a potential link between APS and late-age patients. It emphasizes the importance of considering APS in late-onset chorea cases., (© 2024. The Author(s).)

Background: Although infrequent, Sydenham's chorea (SC) may occur as a result of injury to the basal ganglia in children with acute rheumatic fever (ARF) secondary to group A Streptococcal infection. Certain hallmarks of SC, such as movement disorders, could be utilized as a predictive marker for carditis. The present study aimed to investigate neurologic and cardiologic symptoms in children with suspected SC after ARF., Methods: All children aged 5-16 who were admitted at Shahid Madani Pediatric Hospital (Tabriz, Iran), with an initial diagnosis of ARF and SC between 2009 and 2022 were included for echocardiographic assessment and prospective follow-up within 6 and 12 months after the start point. The pattern and severity of valvulopathy, as well as the prevalence of Jones criteria for rheumatic fever, were used to assess the effect. The collected data were analyzed using SPSS Statistics software (version 22.0) using Chi square and Fisher's exact tests. P<0.05 was considered statistically significant., Results: The study enrolled 85 children, 36 girls and 49 boys, with a mean age of 9.7±2.7. On the first echocardiography, 42.4% of patients had mitral valve regurgitation (MR), with a predominance of female patients (P=0.04). Of those diagnosed with SC (12 girls and 6 boys), 66.7% showed cardiac involvement, with a higher prevalence of MR in both sexes (P=0.04). The pattern of cardiac involvement after 6 months was significantly different between the groups (P=0.04). However, no such difference was observed during the one-year follow-up (P=0.07). Female sex was found to have a significant relationship with SC localization (P=0.01)., Conclusion: In addition to its neurological manifestations, SC can be associated with clinical or subclinical cardiac valve dysfunction that might last for more than a year. In addition to attempting early detection and appropriate management, a precise cardiac and neurologic assessment during admission and follow-up is recommended.A preprint version of this manuscript is available at DOI: 10.21203/rs.3.rs-772662/v1 (https://www.researchsquare.com/article/rs-772662/v1)., Competing Interests: None declared., (Copyright: © Iranian Journal of Medical Sciences.)

Introduction: Chorea is primarily due to an imbalance of basal ganglia output pathways, often due to dysfunction or degeneration of the caudate nucleus and putamen, and can be due to many causes., Methods: We reviewed the recent literature to identify newly-recognized causes of chorea, including auto-immune, metabolic, and genetic. We also focused upon developments in mechanisms relating to underlying pathophysiology of certain genetic choreas and advances in therapeutics., Results: Novel autoantibodies continue to be identified as causes of chorea. Both COVID-19 infection and vaccination are reported to result rarely in chorea, although in some cases causality is not clearly established. Advances in genetic testing continue to find more causes of chorea, and to expand the phenotype of known genetic disorders. Deep brain stimulation can be successful in certain circumstances., Conclusion: Our understanding of mechanisms underlying this movement disorder continues to advance, however much remains to be elucidated., Competing Interests: Declaration of competing interest There are no competing interests., (Published by Elsevier Ltd.)

Background: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. Since Costeff described the phenotype of 19 patients in 1989, several reports described approximately 50 patients, but most of them lack details about neuro-ophthalmic phenotype. Our aim was to characterize the clinical neuro-ophthalmic phenotype of this syndrome., Methods: Nine patients underwent meticulous visual function history and medical documents' review. Results of best-corrected visual acuity (VA), color vision, visual field (VF), ocular motility, pupillary reaction, slit-lamp, and dilated fundus examinations were recorded. Optical coherence tomography (OCT) was performed whenever possible., Results: The average VA was 1.4 ± 0.8 logarithm of the minimum angle of resolution. Poor vision was the presenting symptom in 5 patients. Six patients had decreased VA and variable degrees of optic atrophy. Humphrey VF testing of 7 patients revealed generalized depression in 5 and a cecocentral defect in 2. All patients demonstrated dysmetric saccades. Four patients had strabismus, 3 with exotropia, and one with esotropia. Seven patients had nystagmus. Ocular motility abnormality is possibly the result of cerebellar atrophy that was found in MRI studies of our patients. OCT of the retina was possible in 6 patients and revealed retinal nerve fiber layer (RNFL) thinning as well as average retinal thinning. Three patients, in whom ganglion cell layer-inner plexiform layer (IPL) measurement was possible, also showed diffused thinning., Conclusions: This study compiled data regarding neuro-ophthalmic manifestation of OPA 3 Type III patients. Contrary to established literature, poor vision was the presenting symptom in only 50% of our patients. This is the first report of OCT findings in 3MGA patients. The results demonstrated diffused thinning of the RNFL and ganglion cell complex-IPL with correlation to VA, which is in contrast to OPA1 patients in whom the most severe thinning is at the level of the papillomacular bundle. Average retinal thinning was identified at second and third decades of life, possibly resulting from early ganglion cell loss. These results may contribute to visual prognosis, and OCT may help monitor experimental therapies., Competing Interests: G. Yahalom received consultation fee from AbbVie Inc. The remaining authors report no conflicts of interest., (Copyright © 2021 by North American Neuro-Ophthalmology Society.)

Background: Although NKX 2.1 related chorea has been considered benign due to the favourable course of motor phenotype during life, the neurological condition is not limited to chorea, including non-motor symptoms in the developmental, cognitive and psychiatric domain. Aim of our study was to test working memory, attention and planning abilities of a cohort of NKX2.1 choreic patients compared to healthy controls., Methods: patients and healthy controls were assessed for working memory (Visual Digit Span test), response inhibition and sustained attention (Cued Go/No-Go test), and spatial problem-solving and planning task (Tower of London test). For experimental protocol, we used a computer based tool for neuropsychological experiments, Inquisit 5.0 software (Millisecond Software®). Non-parametric tests were performed for statistical analysis., Results: six patients and fifteen healthy paediatric controls were recruited. In the Digit Span test, both in forward and backward recall, patients showed statistically significant lower scores than controls. In the Cued Go/No-Go test as well as in the Tower of London, NKX 2.1 patients showed similar scores in the error rate and total score respectively, whereas in both tests they appeared to be slower than controls suggesting a poor performance in the execution of the tests., Conclusions: our findings demonstrate that patients with NKX2.1-related chorea show a selective impairment in working memory with increased latencies in both planning and attention. A developmental alteration of the cholinergic neurotransmission in the basal forebrain and the disruption of striatal networks could explain, at least in part, this neuropsychological profile., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Hemichorea and other hyperkinetic movement disorders are a rare presentation of stroke, usually secondary to deep infarctions affecting the basal ganglia and the thalamus. Chorea can also result from lesions limited to the cortex, as shown in recent reports. Still, the pathophysiology of this form of cortical stroke-related chorea remains unknown. We report 4 cases of acute ischemic cortical strokes presenting as hemichorea, with the infarction being limited to the parietal and insular cortex in perfusion computed tomography scans and magnetic resonance imaging. These cases suggest potential dysfunction of pathways connecting these cortical regions with the basal ganglia., Competing Interests: Declaration of Competing Interest None., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Mutations in RNF216 have been found to be associated with autosomal recessive Huntington-like disorder. Here, we describe a patient with Huntington-like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face, and four extremities, with prominent cognitive deterioration. White matter lesions in cerebral hemispheres and brainstem, cerebellar atrophy, and low gonadotropin serum levels have been demonstrated. We have identified a homozygous deletion of exon 2 in the RNF216 gene by whole-exome sequencing. Our findings increased genetic knowledge of autosomal recessive Huntington-like disorder and extended the ethnic distribution of RNF216 mutations., (© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Paroxismal non-kinesigenic dyskinesia (PNKD) is a rare movement disorder manifesting as choreatic/dystonic movements, usually lasting from minutes to up to 4 h, with perserved consciousness during attacks. Primary PNKD are idiopathic or genetic disorders while secondary PNKD are associated with various neurologic and medical conditions. We present a case with PNKD and right sided hemidystonia in association with celiac disease, responsive to gluten-free diet, not previously reported in available literature. In conclusion, diagnostic tests for celiac disease should be a part of etiological investigations in patients with otherwise unexplained movement disorders including PKND. Gluten free diet could produce a favorable clinical response in those patients., (Copyright © 2019. Published by Elsevier B.V.)

Background: Huntington Disease-Like 2 (HDL2) is a rare autosomal dominant disorder caused by an abnormal CAG/CTG triplet repeat expansion on chromosome 16q24. The symptoms of progressive decline in motor, cognitive and psychiatric functioning are similar to those of Huntington's disease (HD). The psychiatric features of the HDL2 have been poorly characterized., Objective: To describe the neuropsychiatric features of HDL2 and compare them with those of HD., Methods: A blinded cross-sectional design was used to compare the behavioural component of the Unified Huntington's Disease Rating Scale (UHDRS) in participants with HDL2 (n = 15) and HD (n = 13) with African ancestry., Results: HDL2 patients presented with psychiatric symptoms involving mood disturbances and behavioural changes that were not significantly different from those in the HD group. Duration of disease and motor performance correlated (p < 0.001) with the Functional Capacity score and the Independence score of the UHDRS. HD patients reported movement dysfunction as the first symptom more frequently than HDL2 Patients (p < 0.001)., Conclusion: The psychiatric phenotype of HDL2 is similar to that of HD and linked to motor decline and disease duration. Psychiatric symptoms seem more severe for HDL2 patients in the early stages of the disease.

Objectives: Huntington's Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. The Huntington's Disease (HD) phenocopy has the greatest clinical resemblance to HD, but its neurocognitive characterisation is poorly researched. This study reports on the neurocognitive profile of seven HDL2 patients including preserved functions, deficits and dissociations (classical and strong) and provides a general characterisation of the cognitive dysfunction of HDL2 in relation to the progression of the disease., Methods: The neuropsychological performance of seven HDL2 patients were compared to one of four control groups, matched by age and level of education using a Single Case-Control design. All patients were polyglots and with public education (primary and secondary). Deficits, as well as classical and strong dissociations within each case profile, were identified by implementing Crawford and Howell's (1998) t-test and the Revised Standardized Difference Test (Crawford and Garthwaite, 2005), respectively., Results: The HDL2 neurocognitive syndrome is heterogeneous with a variable rate of progression, with the psychomotor and dexterity domain consistently and severely impaired., Conclusion: HDL2 has a heterogeneous impact on cognitive functions from early stages in the disease, which evolve to dementia in a non-uniform manner, in keeping with preferential damage in the cerebrocortical-basal ganglia-thalamus-cerebrocortical circuit., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Background: Movement disorders including hemichorea-hemiballism as the initial presentation of an acute ischemic stroke are uncommon. Structures outside of the deep subcortical areas such as the subthalamic nucleus or basal ganglia are rarely involved., Case Report: We report a case of a 72-year-old man with vascular risk factors who presented with acute onset right-sided hemichorea-hemiballism. Metabolic-, infectious-, and toxic-related conditions were ruled out, his EEG was without epileptiform changes. An MRI confirmed an acute ischemic stroke in the parieto-occipital region without any subcortical structures involved. Atrial Fibrillation was later discovered during his hospitalization and was treated appropriately., Conclusions: Although rare, strokes outside of the subthalamic nucleus can result in hemichorea-hemiballism., (Published by Elsevier Inc.)

Thalamotomy is an established treatment for medically refractory tremor. Major complications of thalamotomy include cognitive disturbance, paralysis, dysphagia, sensory loss, and speech disturbance. Hemiballism is a rare complication after thalamotomy. We herein present a 74-year-old female patient who developed choreo-ballistic movement after thalamotomy. She was diagnosed with Lewy body dementia at the age of 70 years and exhibited worsening bilateral hand tremor. Her tremor was severe and pharmacoresistant. Left thalamotomy was planned with the trajectory passing through the ventralis intermedius (VIM) nucleus to the posterior subthalamic area (PSA). The right VIM nucleus and PSA were both coagulated with one trajectory, resulting in the immediate amelioration of right hand tremor. However, four days after surgery, choreo-ballistic movement appeared in the right leg and persisted for six months. Furthermore, tremor recurred after one month. Postoperative MRI showed a small coagulated lesion in the subthalamic nucleus. Although choreo-ballistic movement is a rare complication, it needs to be considered, particularly in patients in which the inferior border of the VIM nucleus is targeted., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Rationale: Hemichorea-hemiballism, a rare manifestation of non-ketotic hyperglycemia, characterized by involuntary arrhythmic motions involving one side of the body, results from focal lesions in the contralateral caudate nucleus and putamen. Hyperkinetic disorders can be complications of uncontrolled diabetes mellitus and should not be ignored., Patient Concerns: We present the case of a 39-year-old woman who presented to the emergency department with a 3-day history of left-sided hemichorea-hemiballism. She had type 2 diabetes mellitus with poor control and maintenance of regular hemodialysis., Diagnoses: The patient was diagnosed as hyperglycemia, normal ketone body and hemichorea-hemiballism based on laboratory examination, computed tomography (CT) scan, and brain magnetic resonance image (MRI)., Interventions: Intensive glycemic control via insulin injection was prescribed for correction of hyperglycemia., Outcomes: The unilateral involuntary movements subsided progressively over four weeks. The patient's hemichorea had completely resolved at the three-month follow-up., Lessons: This unusual clinical presentation is often accompanied by severe hyperglycemia. Appropriate blood glycemic control is important. If physicians recognize and provide early treatment for this disease, it is usually treatable and has a good prognosis.

Background: Sydenham's chorea is the most common acquired movement disorder of adolescence. This clinical manifestation of acute rheumatic fever has a clear and documented relationship with Group A streptococcal infections. The symptoms are involuntary choreiform movements that can affect the face and all extremities. The pathophysiology remains unclear., Case Report: A 12-year-old female was brought to the emergency department with a 2-week history of involuntary muscle spasms of her right arm and leg. Her parents reported intermittent slurred speech and difficulty grasping utensils. Physical examination revealed an awake, alert, age-appropriate female with normal cranial nerves. Patient was found to have choreoathetoid movements on the right extremities with dystonia of right leg with ambulation. Neurology consultation, computed tomography of the head, and magnetic resonance imaging of the brain did not show any acute pathology. Echocardiogram did show mild tricuspid regurgitation, suggestive of rheumatic fever. Anti-streptolysin O titer was markedly elevated, along with DNAse-B antibodies. The patient had marked improvement of movement disorder at just over 1 week later. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Sydenham's chorea is a rare but important movement disorder often related to Group A streptococcus and rheumatic fever. The incidence of rheumatic fever has been decreasing in North America but continues to be much more prevalent in developing countries as well as immigrant populations. This diagnosis is rare and can occasionally be misdiagnosed as a "fidgety" child or as a psychiatric manifestation. Sydenham's chorea is important to diagnose because acute treatment and prophylactic antibiotics can help improve symptoms and minimize cardiac damage., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Introduction: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain., Methods: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for movement disorders, 100 consecutive patients with focal motor seizures were rated by movement disorders experts, epileptologists, and general neurologists., Results: A focal motor seizure phenomenologically manifested as a defined movement disorder in 29% of the patients from a consecutive video-EEG documented cohort as per consensus among experts: myoclonus and dystonia (10 and 9 cases, respectively) were the most common movement disorders, followed by chorea (4), stereotypies (3) myoclonus-dystonia (2), and tremor (1)., Conclusions: Movement disorders and focal motor epilepsy share overlapping movement phenomenology., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, the most common maternally inherited mitochondrial disease, can present with a wide range of neurological manifestations including both central and peripheral nervous system involvement. The most frequent genetic mutation reported in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome is A3243G in MT-TL1 gene. Stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature constitute the known presentations in this syndrome. Among the abnormal involuntary movements in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome, myoclonus is the commonest. Other movement disorders, including chorea, are rarely reported in this disorder., Case Presentation: A 14-year-old South Asian boy from rural Bengal (India), born of a second degree consanguineous marriage, with normal birth and development history, presented with abnormal brief jerky movements involving his trunk and limbs, with recurrent falls for 10 months. We present here a case of heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation, in which the clinical picture was dominated by a host of involuntary abnormal movements including chorea-ballism, myoclonus, and oromandibular dystonia in a backdrop of cognitive decline, seizure, and stroke-like episode. A final diagnosis was established by muscle biopsy and genetic study. Haloperidol was administered to control the involuntary movements along with introduction of co-enzyme Q, besides symptomatic management for his focal seizures. Six months into follow-up his seizures and abnormal movements were controlled significantly with slight improvement of cognitive abilities., Conclusion: The dominance of hyperkinetic movements in the clinical scenario and the finding of a point mutation A3251G in MT-TL1 gene make this a rare presentation.

Huntington's disease (HD) is usually characterized by involuntary hyperkinetic movements, called chorea. The intensity of chorea exhibits a peak in middle stages of HD and then decreases as HD progresses. In contrast, Pakinsonian signs of HD are often less appreciated. They typically progress in a fairly linear pattern over time. In fact, bradykinesia is detectable early on in premanifest gene carriers up to two decades prior to the clinical manifestation of HD symptoms using quantitative motor (Q-Motor) assessments such as finger tapping (digitomotography). Other Parkinsonian symptoms besides bradykinesia are rigidity and postural instability. They typically results in falls and injuries in advanced stages of HD. A primarily Parkinsonian motor phenotype, often seen with little to no chorea, is characteristically observed in older, late manifesting patients and in pediatric HD subjects. Establishing a diagnosis of HD is difficult in these groups and patients are often misdiagnosed in early stages., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. This clinically and genetically heterogeneous group of diseases shares main clinical features presenting most often as a hyperkinetic movement disorder. Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. The current review focuses upon ChAc as the core entity of NA syndromes caused by mutations in the VPS13A gene. The support of patient organizations and the ERA-NET initiative yielded to different multidisciplinary efforts with significant progress on our understanding of ChAc. Disturbances in two pathways are currently considered to be significantly involved in the pathophysiology of ChAc, namely elevated Lyn kinase phosphorylation and decreased signaling via Phosphoinositide 3-kinase (PI3K). These recent developments may reveal potential drugable targets for causative therapies of ChAc., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Background: While opioid-induced myoclonus is well described, there are limited reports of opioid-induced chorea. Here we present the first case of chorea as a manifestation of opioid neurotoxicity due to hydromorphone., Case Presentation: A 20-year-old woman presenting with fevers and cutaneous lesions was diagnosed with hemophagocytic lymphohistiocytosis secondary to primary cutaneous lymphoma. Surgical resection of a cutaneous lesion was complicated by severe postoperative pain requiring rapid opioid dose escalation. Seven days after hydromorphone was initiated, she developed positive myoclonus, hallucinations, delirium, and involuntary, flowing movements consistent with chorea. She had no personal or family history of nervous system disorders and was not taking any medications associated with drug-induced chorea. Case management: The remainder of her neurologic examination was unremarkable. Her renal function was normal and no etiology was found on neuroimaging or laboratory workup. Hydromorphone was discontinued and pain control was achieved with fentanyl. Case outcome: The patient's neurotoxic symptoms including chorea resolved within 72 h of hydromorphone discontinuation., Conclusion: Further studies are needed to determine which patients have a unique sensitivity to opioids predisposing them to chorea. Clinicians should be aware that chorea may be a sign of such toxicity so that rapid corrective action can be taken.

Purpose of Review: This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions., Recent Findings: Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options. Triheptanoin has recently been shown to be a very promising alternative to the ketogenic diet in paroxysmal exercise-induced dyskinesia. Four-aminopyridine is now considered first-line symptomatic therapy for episodic ataxia type-2, with pre-clinical findings indicating cerebellar neuroprotection., Summary: In light of the newly emerging therapies, careful clinical phenotyping is needed to ensure diagnostic precision and timely initiation of appropriate therapies.

An 83-year-old woman presented with acute-onset haemichorea and haemiballism particularly affecting the left side of the body. She was known to have type 2 diabetes, which was poorly controlled with sitagliptin. She was hyperglycaemic but not ketotic or acidotic. After she was started on insulin and good glycaemic control was achieved, her abnormal movements dramatically improved. MRI of the brain showed a T1-weighted hyperintense lesion on the right basal ganglia, which is typical of chorea-hyperglycaemia-basal ganglia syndrome. Other causes of chorea, for example, Huntington's disease, Sydenham chorea, Wilson's disease, malignancy, systemic lupus erythematosus, haemorrhage/infarction, thyroid dysfunction, drug-induced chorea and antiphospholipid syndrome, were excluded or deemed less likely given her rapid response to achieving near euglycaemia., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by non-progressive chorea with early-childhood-onset, congenital hypothyroidism, and neonatal respiratory distress. Although tetrabenazine and levodopa are partly effective for chorea and drop attacks in some patients, there is no standard treatment option. We herein describe a childhood case of BHC that presented with l-thyroxine-responsive drop attacks. A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC. This is the first report to inform the connection between thyroid function and drop attacks in BHC. Moreover, our findings identify l-thyroxine as a therapeutic option for the management of drop attacks in BHC., (Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Competing Interests: Disclosure The authors report no conflicts of interest in this work.

Paroxysmal dyskinesias refer to category of abnormal involuntary movements, such as chorea, dystonia, athetosis, ballism or their various configurations. Depending on the type of seizure, sudden movement, stress, emotions, coffee or alcohol may be the trigger factors. Acute seizures are characterized by short duration and are self-limitated. Patients present correct portray of movements between seizures. Intact consciousness during seizure is the invariable characteristic of all paroxysmal dyskinesias. The intent of this work is to systematize knowledge about paroxysmal dyskinesias. This research includes synthetic information developed based on specialistic literature cencerned with paroxysmal movement disorders. The authors focused primarily on characteristics of the most important issues in this area, into which types of disorders, their causes and treament as well as psychopathology aspect having crucial influence on patients' life comfort were included. The essence of three categories of seizures were put across more extesively: paroxysmal kinesigenic dyskinesia, proxysmal non-kinesigenic dyskinesia and paroxysmal exercise-induced dyskinesia. Primary dyskinesias with genetic basis and secondary to other diseases, such as multiple sclerosis were distinguished. Modes of pharmacological treatment with antiepileptic drug and benzodiazepines were described. Special concern was put on holistic approach to problem of diagnosis and treatment of analyzed movement disorders.

Background: Hemichorea-hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported., Case Report: A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal., Discussion: In our patient, temporal association and the negative clinical assessment supported a diagnosis of likely drug-induced involuntary movement. We hypothesized that enhanced serotonergic transmission in the ventral tegmental area or nigrostriatum may be involved in sertraline-induced hemichorea., Competing Interests: Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.

Competing Interests: Conflict of Interest: None.

Oral deutetrabenazine (Austedo™), a reversible inhibitor of vesicular monoamine transporter type 2 (VMAT2) that is structurally related to tetrabenazine is approved for the treatment of chorea symptoms associated with Huntington's disease (HD). In the pivotal 12-week phase III FIRST-HD trial (n = 90), deutetrabenazine, at doses titrated for optimal chorea control and tolerability (maintenance dosage range 12-48 mg/day), was significantly more effective for controlling chorea in HD patients than placebo. In the ongoing phase III ARC-HD trial, a preliminary analysis demonstrated that deutetrabenazine treatment was associated with improvements in chorea control at 54 weeks in patients who had completed FIRST-HD (i.e. ≤ 66 weeks' treatment; rollover cohort) or switched overnight from tetrabenazine to deutetrabenazine. The tolerability profile of deutetrabenazine is similar to that of placebo, with most treatment-emergent adverse events of mild or moderate severity. In both trials, with the exception of somnolence, individual neuropsychiatric adverse events typically occurred in < 7% of deutetrabenazine recipients; in FIRST-HD, there was no significant difference in the incidence of individual neuropsychiatric events between the deutetrabenazine and placebo groups. The favourable pharmacokinetic (PK) profile of deutetrabenazine permits a lower dosage than tetrabenazine, thereby potentially improving the safety profile of deutetrabenazine versus tetrabenazine, whilst maintaining its efficacy. Long-term clinical experience will assist in fully defining the safety profile of deutetrabenazine. Current evidence, albeit relatively limited, indicates that deutetrabenazine provides an effective and potentially better tolerated option than tetrabenazine for controlling chorea symptoms associated with HD.

Sydenham's chorea is the most common acquired cause of chorea in the third world. We report a case of recurrent chorea successfully treated with sodium valproate. Miss A.C, aged 16, with a history of recurrent angina reported an episode of choreic movements 2 years before requiring treatment with haloperidol and prevention of rheumatic fever. The patient interrupted her treatment with occurrence of a relapse a few months later. Brain MRI and transthoracic ultrasound were normal. Preventive treatment with extencilline and haloperidol was restarted without any improvement, hence the treatment with sodium valproate. The patient responded very well after 2 months of treatment, without recurrence at 3 years' follow-up. The treatment of Sydenham's chorea was based on neuroleptics. Recent studies advocate the use of other more effective and better tolerated molecules.

Objective: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia., Methods: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena., Results: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. None of the patients had EMG patterns of myokymia., Conclusions: In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia. In view of characteristic clinical signs and electrophysiological patterns with a combination of myoclonus and chorea it might be preferable to refer to these phenomena as myoclonus-chorea., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c.580-584+1delCCAAGG, exon 3), in the first case, and an already reported homozygous mutation, in the second case. These cases emphasize that XP-F is a rare cause of recessive cerebellar ataxia and can in some cases clinically mimic Huntington's disease due to chorea and executive impairment. The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications., (Copyright © 2017 Elsevier B.V. All rights reserved.)