Chorea Research Articles

A Case Of Transient Ischemic Attack Presenting As Hemichroea

Chorea is defined as; involuntary movements of the distal parts of limbs which have arrhythmic, rapid, bouncing or smooth, simple or complex properties. Choreiform movements occur when putamen, globus pallidus and subthalamic nucleus are affected. Chorea can be observed during the course of metabolic and vascular diseases, neurodegenerative or hereditary diseases. Chorea may be a rare symptom of cerebral hypoperfusion. Transient ischemic attack is an event that occurs in short term characterized by a temporary ischemia of brain. A wide variety of symptoms can be seen depending on the localization of cerebral hypoperfusion. Hemichorea is a very rare finding observed during transient ischemic attacks. In this article hemichorea in a case of symptomatic transient ischemic attack is discussed with relevant literature.

Anaesthesia and orphan disease

Huntington’s disease is an autosomal dominant disorder that affects the basal ganglia with a prevalence of four to 10 per 100 000 people. Onset is typically between 30 and 50 years of age. There is also a juvenile onset of the disease wherein the symptoms begin before aged 20; this occurs in 10% of affected persons. This latter group is more prone to seizures, has impaired glucose metabolism and often inherits the disease in a sex-linked manner from the father. Genetic tests can confirm the diagnosis, even prenatally. Symptoms include choreic movements, personality disorders and impairment of swallowing and gag reflexes. The anaesthetic management of a patient with Huntington’s disease provides particular challenges due to the risk of pulmonary aspiration and altered responses to anaesthetic drugs. Prolonged apnoea of between 1 and 2 h has been reported after the use of thiopentone and suxamethonium, and there is an increased sensitivity to anticholinergics. Whether these patients have low levels of atypical pseudocholinisterases remains unanswered. We know of no previous reports of the use of sugammadex in the anaesthetic management of patients with Huntington’s disease. We have obtained the patient’s written consent for publication of this case report.

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2‐1

Mutations in the NK2 homeobox 1 gene (NKX2-1) cause a rare syndrome known as choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (OMIM 610978). Here we present the first reported patient with this condition caused by a 14q13.3 deletion which is adjacent to but does not interrupt NKX2-1, and review the literature on this condition. The infant presented at 23 months with a history of developmental delay, hyperkinesia, recurrent respiratory infections, neonatal respiratory distress, and hypothyroidism. Choreiform movements and delayed motor milestones were first noted at 6-8 months of age. TSH levels had been consistently elevated from 8 months of age. The clinical presentation was suggestive of an NKX2-1 mutation. Sequencing of all exons and splice site junctions of NKX2-1 was performed but was normal. Array CGH was then performed and a 3.29 Mb interstitial deletion at 14q13.1-q13.3 was detected. The distal region of loss of the deletion disrupted the surfactant associated 3 (SFTA3) gene but did disrupt NKX2-1. Findings were confirmed on high resolution SNP array and multiplex semiquanitative PCR. NKX2-1 encodes transcriptional factors involved in the developmental pathways for thyroid, lung, and brain. We hypothesize that the region centromeric to NKX2-1 is important for the normal functioning of this gene and when interrupted produces a phenotype that is typical of the choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome, as seen in our patient. We conclude that deletions at 14q13.3 adjacent to but not involving NKX2-1 can cause choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome.

Acute Rheumatic Fever and Rheumatic Carditis in Children

MATERIAL AND METHODS: This study comprises of 110 cases admitted between January 1972 and June, 1975. History was taken and the cases were examined in detail and Rheumatic Fever was diagnosed according to modified Jones Criteria (Jones 1955), with additional qualifications suggested by Irvington House Group (Feinstein 1962).There is a teacher and occupational therapist the Hospital who taught the long stay patients after the acute condition had improved. RESULTS: Table 1: Rheumatic Fever and Rheumatic Carditis in Children 197375_73. Out of 52 cases left after treatment in hospital, 90% were followed up for one year, 64.2% for 2 years and 58.9% for 3 years. Of the Carditis cases, 19 were better, 6 same and 7 worse. The . latter have been admitted again with repeated attacks of Cardiac Failure. Of the complications 1 had Atrial Fibrillation, 2 had SBE and 7 were left with CCF. 14 cases had relapses. Of the latter 11 were cases associated with Arthritis and 4 of these developed Carditis, and 2 cases of Chorea also developed Carditis. DISCUSSION: Rheumatic Fever is as common in Pakistan as ir other deveoping countries. It is a serious disease and carries a high mortality. This may be related to local yirulence of streptococcal infect ion, over-crowding, malnutrition and various other factors prevailing in Pakistan. There should be a community vide programme for prevention and prophylaxis, involving health agencies, school health department, voluntary groups and committee organised by the medical association.

Choreiform movements associated with pegylated interferon-alpha in a patient with chronic hepatitis C

Choreiform movements associated with pegylated interferon-alpha in a patient with chronic hepatitis C

Q03 Effects of tetrabenazine on choreiform movements in the transgenic rat model of Huntington's disease

BackgroundOpen-label studies indicate that tetrabenazine (TBZ), a reversible inhibitor of the vesicular monoamine transporter type 2, is effective in reducing the chorea in patients with Huntington's disease (HD). Animal models...

A report of an outbreak of toxicity from a novel drug of abuse: ERIC-3

BackgroundNovel drugs of abuse are becoming more common in the UK, and they represent particular difficulties in management. We present a case series of toxicity due to a novel substance...

Acute, Sustained Chorea in Children After Supratherapeutic Dosing of Amphetamine-Derived Medications

Amphetamine-derived medications are being prescribed with increasing frequency to younger pediatric patients to treat attention deficit hyperactivity disorder. Although choreiform movements were reported in adults with amphetamine abuse and in those under therapeutic treatment for attention deficit hyperactivity disorder, previous literature concerning the pediatric population is spare. We describe two children who developed chorea after ingesting amphetamine-derived medications prescribed to treat attention deficit hyperactivity disorder. Patient 1, a 10-year-old boy, accidently received an extra dose of lisdexamfetamine dimesylate the night before the onset of acute chorea involving his arms, legs, and trunk. Patient 2, an 8-month-old boy, accidentally ingested his stepbrother's mixed amphetamine salts (Adderall XR) and developed acute chorea. Benzodiazepines, diphenhydramine, benztropine, and opioids did not suppress the chorea in either case. The 10-year-old received haloperidol, which significantly improved his abnormal findings, and he returned to baseline in approximately 48 hours. The 8-month-old was observed in the pediatric intensive care unit, and his signs resolved by 72 hours. Our cases demonstrate that choreiform movements of sustained duration can occur in children with acute supratherapeutic ingestions of amphetamine-derived medications.

Impact of dopamine versus serotonin cell transplantation for the development of graft-induced dyskinesia in a rat Parkinson model

Graft-induced dyskinesia (GID), covering a range of dystonic and choreiform involuntary movements, has been observed in some patients with Parkinson's disease (PD) after intracerebral cell transplantation. These dyskinesias have been severe in a number of patients and represent one of the main obstacles for further development of the cell therapy in PD. Serotonin neurons, included into the dopaminergic cell suspension due to the nature of the dissection process, have been suggested as a key factor for the development of GID, since the administration of the serotonin (5-HT)1A-receptor agonist buspirone reduced dyskinesia in transplanted PD patients. In the present study, we characterized GID in the rat PD model after transplantation of dopaminergic grafts containing different amounts of serotonin neurons. The severity of GID was significantly correlated with the amount of grafted dopamine and serotonin neurons, but the r-values were low. However, neither the innervation density of dopamine and serotonin fibers in the grafted striatum nor the dopamine-to-serotonin cell ratio correlated significantly with the severity of GID. The results extend prior knowledge of the role of dopaminergic grafts in the development of GID and show that, in the animal model, serotonin neurons within the graft suspension might be involved, but given sufficient dopamine cells, their impact on GID may be minor.

Probable Creutzfeldt-Jakob Disease after Ingestion of Bovine Brain (P03.254)

Background Since 1996, three cases of variant Creutzfeldt-Jakob disease (vCJD) have been reported in the US. All had been exposed to bovine brain from the United Kingdom. No US acquired vCJD have been reported. CASE PRESENTATION: 35-year-old male presents with choreiform movements, vision loss and possible seizures for three months with worsening symptoms two days prior to presentation. Past medical history and family history unrevealing. The patient is originally from Mexico. He consumed bovine brain in Mexico and also in the US. Examination shows vision loss in the left eye, choreiform movements noted predominantly in the left arm, and no memory disturbance. Results: MRI brain showed bilateral restricted diffusion in the caudate, thalamus, right putamen, with subtle involvement of the frontal and parietal/occipital cortex. Initial EEG showed electrographic seizures and subsequent EEG9s showed periodic, generalized, sharp wave complexes (PSWCS). Infection and rheumatologic workup was unrevealing. CSF testing showed elevated protein of 78. Neuron specific enolase was elevated at 41ng/ml. 14-3-3 protein was positive at 32 ng/ml. TAU elevated at 2589 pg/ml. The patient9s neurological status rapidly declined over the hospital course to the point that he was unresponsive to painful stimuli and unable to be weaned from the ventilator. His family was given his poor prognosis and probable CJD diagnosis. Family declined brain biopsy/autopsy. Patient died shortly after extubation and withdrawal of care. Conclusions: Meets World Health Organization criteria for probable CJD. The only risk factor known is consumption of bovine brain. This case illustrates the important awareness of not consuming bovine central nervous tissue. Recognition of the variable presentations of this fatal disease is critical for detection of CJD in the US. Improving methods to detect CJD, such as increasing the number of autopsies/biopsies on patients with suspected prion disease, enhances the ability to identify cases of CJD. Disclosure: Dr. McDougall has nothing to disclose. Dr. Lowden has nothing to disclose.

Wheels within wheels: multifocal autoimmune myelitis in a woman with Huntington’s disease

Hungtington’s disease (HD) is an autosomal dominant inherited genetic/neurodegenerative disorder. Early clinical manifestation varies widely, including cognitive and behavioural abnormalities. In later stages, the full clinical picture of HD is not limited to choreiform movements, but may comprise various other symptoms and eventually imitate other neurologic disorders, e.g., rigidity in juvenile HD and even signs of motor neuron disease [1, 2]. Besides clinical examination and family history, if available, diagnosis consists of CAG repeats in the huntingtin gene, with CAG [ 39 certainly predicting HD. Despite current research efforts, the only available consensus surrogate marker for age of onset and disease progression, though limited in sensitivity, is the number of CAG repeats [3, 4]. A 47-year-old female patient was transferred to us from the psychiatric clinic for further clarification of dyskinesia and walking inability. She had previously been treated in an outpatient clinic after being found in her apartment in a cachectic and disoriented state unable to walk. She had been divorced for about 10 years and ever since without social contacts, accounting for the scarce medical and family history. After exclusion of apparent somatic deficits she had been referred to the psychiatric clinic suspecting a psychotic disorder, which was excluded, and she was referred to us. On admission she demonstrated a reduced cognitive performance, responding inadequately, and was unable to summarise her symptoms in an organised chronological order. On neurological examination she had mild distal choreiform hyperkinesias in the upper limbs and mild dysarthria, which in combination with behavioural abnormalities supported clinically manifest Huntington’s disease (HD). No further clinical HD signs were evident. Furthermore, she had severe spastic paraparesis [2/5 for the hip flexors on the Medical Research Council (MRC) scale] with brisk reflexes of the lower limbs and positive leftsided Babinski sign. No paresis or reflex abnormalities were present in the upper limbs. On genetic testing, 44 CAG repeats on one huntingtin allele and 17 on the other were detected. Total motor score on Unified Huntington’s Disease Rating Scale was 16 (range 0–124). As to the spastic paraparesis, external cranial MRI scans a week prior to admission had not revealed any abnormalities in terms of neuroinflammation, generalised or focal cortical/subcortical atrophy, or any neoplastic changes or neurovascular events. In addition, we performed electrophysiology (motor evoked potentials) showing prolonged central latencies (M. peroneus), cerebrospinal fluid (CSF) sampling demonstrating oligoclonal bands (OCB), and spinal MRI showing several increased T2-weighted signals in the cervical (C3/ 4, C6/7; Fig. 1a, b) and thoracic spine (Th2, Th4; Fig. 1c) with a gadolinium-enhancing lesion (C6/7; Fig. 1d). Further serological and CSF analyses excluded infectious, paraneoplastic or other autoimmune entities as neuromyelitis optica spectrum diseases (antibodies against A. Haghikia and B.F. Decard contributed equally to this case presentation.

Some Adults with OCD Have Anti–Basal Ganglia Antibodies

Anti–basal ganglia antibodies (ABGAs) have been found in patients with Sydenham chorea, which is a sequel of streptococcal infection (strep) and has a

Kuru

Kuru was the first human transmissible spongiform encephalopathy (TSE) or prion disease identified, occurring in the Fore linguistic group of Papua New Guinea. Kuru was a uniformly fatal cerebellar ataxic syndrome, usually followed by choreiform and athetoid movements. Kuru imposed a strong balancing selection on the Fore population, with individuals homozygous for the 129 Met allele of the gene (PRNP) encoding for prion protein (PrP) being the most susceptible. The decline in the incidence of kuru in the Fore has been attributed to the exhaustion of the susceptible genotype and ultimately by discontinuation of exposure via cannibalism. Neuropathologically, kuru-affected brains were characterized by widespread degeneration of neurons, astroglial and microglial proliferation, and the presence of amyloid plaques. These early findings have been confirmed and extended by recent immunohistochemical studies for the detection of the TSE-specific PrP (PrP). Confocal laser microscopy also showed the concentration of glial fibrillary acidic protein-positive astrocytic processes at the plaque periphery. The fine structure of plaques corresponds to that described earlier by light microscopy. The successful experimental transmission of kuru led to the awareness of its similarity to Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker disease and formed a background against which the recent epidemics of iatrogenic and variant Creutzfeldt-Jakob disease could be studied.

Benign hereditary chorea 2: Pathological findings in an autopsy case

Two Japanese families with benign hereditary chorea (BHC) 2 have recently been reported. BHC 2 is characterized by adult-onset non-progressive chorea, and by genetic abnormality in the locus of chromosome 8q21.3-q23.3. This differs from the genetic abnormality previously reported in BHC. Here we report the first autopsied case of a member of one of two known families with BHC 2. A normally developed woman recognized choreiform movements of her bilateral upper extremities beginning approximately at age 40. The movements had slowly spread to her trunk and lower extremities by approximately age 60. Generalized muscular hypotonia was also observed. The symptoms persisted until her death at the age 83, but had not worsened. Neuropathological examination revealed mild to moderate neuronal loss and astrocytosis in the striatum and decreased volume of cerebral white matter with astrocytosis bilaterally. Additionally, sparse but widely distributed neurofibrillary tangles and argyrophilic threads as well as scattered tufted astrocytes immunoreactive for 4-repeat isoform of tau were observed in the cerebrum, brainstem and cerebellum, showing 4-repeat tauopathy similar to that of progressive supranuclear palsy (PSP). Unique neuronal cytoplasmic inclusions were observed in the oculomotor nuclei; however, any specific immunoreactivities (e.g. ubiquitin and p62) were not detected, suggesting the presence of previously undescribed protein intracellular inclusions. Clinicopathologically, chorea accompanied with generalized muscular hypotonia seemed to be associated with mild degeneration of the striatum and cerebral white matter. The significance of PSP-like changes in the pathogenesis of BHC 2 remains to be elucidated.

Pharmacologically Addressing Chorea in Huntington Disease

To assess the efficacy of current pharmacologic treatments for chorea in patients with Huntington disease (HD), the Guideline Development Subcommittee of the American Academy of Neurology examined 33 relevant studies identified in the literature. The main conclusions were as follows:

Dextromethorphan/Quinidine for Chorea

Dextromethorphan/Quinidine for Chorea

Hemichorea-hemiballismus as the presenting manifestation of nonketotic hyperglycemia in an adolescent with undiagnosed type 2 diabetes mellitus

Hemichorea-hemiballismus as the presenting manifestation of nonketotic hyperglycemia in an adolescent with undiagnosed type 2 diabetes mellitus

Metoclopramide-Induced Tardive Respiratory Dyskinesia

Metoclopramide-Induced Tardive Respiratory Dyskinesia

Epidural anesthesia in a patient with Huntington and #8217;s chorea

Huntington's chorea (HC) is a rare, autosomal, dominant hereditary disorder of the nervous system. Symptoms occur in the third and fourth decade of life and manifest as involuntary choreiform movements, ataxia, and progressive mental deterioration. Only a few case reports have been published describing the anesthetic management of patients with HC. Patients are at greater risk for some intraoperative complications (e.g., regurgitation and pulmonary aspiration), poor respiratory function, prolonged response to succinylcholine and thiopental, increased sensitivity to midazolam, and postoperative shivering leading to rigid spasms. All these factors make an ideal anesthesiological management necessary for this group of patients to guarantee an absolute airway protection during all the anesthesia and a fast and safe recovery. To the best of our knowledge, epidural anesthesia in HC patients has not been reported in the literature. Herein, we present our successful experience using epidural anesthesia in a HC patient.

Paroxysmal Kinesigenic Dyskinesia-like Symptoms in a Patient with Tourette Syndrome.

Paroxysmal kinesigenic dyskinesia (PKD) is characterized by episodic dystonia or choreiform movements provoked by sudden voluntary movement. PKD is not commonly reported in Tourette syndrome (TS). We describe a unique case of TS with PKD-like episodic dyskinesia that responded to carbamazepine. A 36-year-old male with long-standing TS developed paroxysmal "cramping". Attacks were provoked by quick, sudden arm movements, which induced dystonic cramping, or by reaching overhead, which caused painful contraction of truncal muscles. The spells typically lasted 5-20 seconds and occurred multiple times daily. The patient's mother suffered from intermittent dystonic toe curling. In view of the similarity of symptoms to PKD, carbamazepine was prescribed at 400 mg daily. The symptoms resolved completely. Inadvertent discontinuation led to relapse, and resumption led to recapture of benefit. This case demonstrates the possibility that PKD-like symptoms may co-occur with TS and may be responsive to carbamazepine.