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1. Vascular Pathology Causing Late Onset Generalized Chorea: A Clinico‐Pathological Case Report (PubMed)

Vascular Pathology Causing Late Onset Generalized Chorea: A Clinico‐Pathological Case Report Chorea may occur as a manifestation of an acute stroke. Patients with vascular-related chorea typically present with an acute or subacute onset of hemichorea, contralateral to the lesion.In this clinico-pathological case, we report a 90-year-old female who presented, at age 81, with a transient episode of generalized chorea. Over the years, the patient continued to have intermittent episodes (...) of generalized chorea or hemichorea, followed by a progressive dementia syndrome with gait and sphincter disturbance. There was no family history of chorea or dementia. Laboratory tests for paraneoplastic or autoimmune disorders and genetic testing for Huntington's disease were normal or negative. Magnetic resonance imaging showed subcortical and basal ganglia atrophy associated with ischemic leukoencephalopathy and lacunar infarcts. The post-mortem examination identified multiple lacunar infarcts (cortex

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2017 Movement disorders clinical practice

2. The effect of interventions for management of chorea in Huntington's Disease

The effect of interventions for management of chorea in Huntington's Disease Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email

2019 PROSPERO

3. The development of a new computer adaptive test to evaluate chorea in Huntington disease: HDQLIFE Chorea (PubMed)

The development of a new computer adaptive test to evaluate chorea in Huntington disease: HDQLIFE Chorea Huntington's disease (HD) is an autosomal dominant neurodegenerative disease associated with motor, behavioral, and cognitive deficits. The hallmark symptom of HD, chorea, is often the focus of HD clinical trials. Unfortunately, there are no self-reported measures of chorea. To address this shortcoming, we developed a new measure of chorea for use in HD, HDQLIFE Chorea.Qualitative data (...) and literature reviews were conducted to develop an initial item pool of 141 chorea items. An iterative process, including cognitive interviews, expert review, translatability review, and literacy review, was used to refine this item pool to 64 items. These 64 items were field tested in 507 individuals with prodromal and/or manifest HD. Exploratory and confirmatory factor analyses (EFA and CFA, respectively) were conducted to identify a unidimensional set of items. Then, an item response theory graded

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2016 Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

4. Sydenham's Chorea. (PubMed)

Sydenham's Chorea. 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.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 (...) 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

2019 Journal of Emergency Medicine

5. You can dance if you want to: A case of Sydenham's chorea. (PubMed)

You can dance if you want to: A case of Sydenham's chorea. Isolated motor disturbances in the paediatric population are uncommon presentations to the emergency department. Choreiform movements have a broad differential diagnosis and may present insidiously with progressive worsening of asymmetric clumsiness, hypotonia and dysarthria. The incidence of Sydenham's chorea (SC) caused by acute rheumatic fever (ARF) is very rare in developed countries. We report a previously healthy, vaccinated 9 (...) and inability to hold a pencil at school. He was subsequently diagnosed with chorea by the neurology team. The cause of chorea was later determined to be SC, and the patient's throat swab came back positive for group A-beta hemolytic strep (GAS) infection. We explore current literature regarding the various presentations of ARF, differential considerations in acute chorea, and diagnostic studies needed to determine the etiology of acute chorea. With the low incidence of chorea in developed nations

2019 American Journal of Emergency Medicine

6. Beyond Dystonia‐Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations (PubMed)

Beyond Dystonia‐Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations Mutations in the ATP1A3 gene (the α-3 subunit of the Na+/K+ ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had (...) a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years. Case 2 presented with limb dystonia at age 26 years and dysarthia and dysphagia after a febrile illness. Case 3 had a history of learning disability and developed progressive ataxia with cerebellar atrophy at age 20 years. In all cases, deleterious mutations were identified in ATP1A3. They illustrate wide phenotypic variability, including chorea and ataxia

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2016 Movement disorders clinical practice

7. Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode (PubMed)

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode Chorea-acanthocytosis (ChAc) is a rare neurodegenerative movement disorder with variable clinical features, including movement disorders, cognitive decline, myopathy, neuropathy, behavioral changes, seizures and acanthocytosis. The majority of ChAc patients display an autosomal recessive mode of inheritance. A pseudodominant way of transmission represents only a rare condition. Few studies have reported

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2018 Frontiers in neurology

8. P/Q and N-type Voltage-gated Calcium Channel Binding Antibodies Associated with Paraneoplastic Chorea and Mixed Invasive Ductal and Lobular Carcinoma of the Breasts in an Elderly Patient (PubMed)

P/Q and N-type Voltage-gated Calcium Channel Binding Antibodies Associated with Paraneoplastic Chorea and Mixed Invasive Ductal and Lobular Carcinoma of the Breasts in an Elderly Patient Paraneoplastic neurologic syndromes are a group of immune-mediated, cancer-associated disorders affecting the nervous system. While these syndromes are not understood fully, they are reportedly caused by an immune response against common antigens expressed by the cancer and nervous system. We describe (...) the course of a patient who suffered paraneoplastic chorea before being diagnosed with breast cancer. A 70-year-old female presented with complaints of "shaking" movements of her head. History, physical exam findings, and preliminary workup ruled out the hereditary, metabolic, and infectious causes of chorea while brain computed tomography (CT) ruled out chorea due to a basal ganglia lesion. A paraneoplastic antibody panel identified N-type and P/Q-type voltage-gated (V-G) calcium channel binding

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2018 Cureus

9. Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. (PubMed)

Physician perceptions of pharmacologic treatment options for chorea associated with Huntington disease in the United States. To survey neurologists and obtain clinical perceptions of tetrabenazine for the treatment of chorea in patients with Huntington disease (HD).Board-certified/board-eligible neurologists, in practice for ≥5 years, who had treated treat ≥3 HD patients in the past 2 years, were recruited from an online physician panel to participate in a cross-sectional, web-based survey (...) . Respondents provided information about themselves, their practice, approaches to HD chorea management and perceptions of available treatments.Two hundred neurologists responded to the survey. Based on clinician responses, the most common reasons to treat chorea are impairment in activities of daily living (54%) and quality of life (41%). Although tetrabenazine was the only approved treatment for chorea in HD patients at the time of this analysis, it was only prescribed to ∼50% of patients with HD-related

2018 Current medical research and opinion

10. A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. (PubMed)

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. We investigated a family that presented with an infantile-onset chorea-predominant movement disorder, negative for NKX2-1, ADCY5, and PDE10A mutations.Phenotypic characterization and trio whole-exome sequencing was carried out in the family.We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate (...) novel genetic cause of chorea in the proband. PDE2A hydrolyzes cyclic adenosine/guanosine monophosphate and is highly expressed in striatal medium spiny neurons. We functionally characterized the p.Asp480Gly mutation and found that it severely decreases the enzymatic activity of PDE2A. In addition, we showed equivalent expression in human and mouse striatum of PDE2A and its homolog gene, PDE10A.We identified a loss-of-function homozygous mutation in PDE2A associated to early-onset chorea. Our

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2018 Movement Disorders

11. A Unique Case with Oral Dyskinesia, Chorea, Ataxia, and Mild Cognitive Impairment with Caudate Atrophy and Characteristic Brain Calcifications (PubMed)

A Unique Case with Oral Dyskinesia, Chorea, Ataxia, and Mild Cognitive Impairment with Caudate Atrophy and Characteristic Brain Calcifications The authors report a man who developed oral dyskinesia at 46 years of age, followed by slowly progressive choreic movement and mild cognitive impairment over 20 years. He showed caudate atrophy and four types of intracranial calcification in the hippocampus (dot-like), cerebellar white matter (vague-mass), occipital cortices (laminar), and cerebral white

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2018 Internal Medicine

12. Hyperglycemia and chorea (PubMed)

Hyperglycemia and chorea (A) Computed tomography of the brain showing no abnormal finding. (B) Magnetic resonance imaging of the brain showing a T1-weighted area of hyperintensity in the left putamen, caudate nucleus, and globus pallidum with sparing of the internal capsule (arrow). (C) T2*-weighted image showing hypointensity in the left putamen, caudate nucleus, and globus pallidum (arrowhead). (D) T2-weighted image showing no abnormal finding.

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2018 Journal of General and Family Medicine

13. Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing (PubMed)

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting.Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and rare variants were prioritized for interpretation with respect to the phenotype.A previously undescribed, 1-kb homozygous (...) deletion was identified in both individuals sequenced, which spanned 2 exons of the VPS13A gene, and was found to segregate in other family members.VPS13A is associated with autosomal recessive chorea-acanthocytosis, a diagnosis consistent with the phenotype observed in this family. Whole-genome sequencing presents a comprehensive and agnostic approach for detecting diagnostic mutations in families with rare neurologic disorders.

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2018 Neurology: Genetics

14. Diabetic chorea as a neurological complication (PubMed)

Diabetic chorea as a neurological complication Diabetic chorea accompanies hyperglycemic states or drastic changes in blood glucose levels and involves the acute onset of unilateral or bilateral choreatic movements. Diabetes is sometimes discovered due to diabetic chorea, and thus, diabetic chorea is considered an important neurological complication.

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2018 Clinical Case Reports

15. Understanding How Chorea Affects Health-Related Quality of Life in Huntington Disease: An Online Survey of Patients and Caregivers in the United States (PubMed)

Understanding How Chorea Affects Health-Related Quality of Life in Huntington Disease: An Online Survey of Patients and Caregivers in the United States Chorea is the hallmark motor feature of Huntington disease (HD) and can negatively impact daily functioning and health-related quality of life (HRQoL).The objective of this study was to evaluate how chorea impacts HRQoL and overall functioning among HD patients participating on the PatientsLikeMe website ( www.PatientsLikeMe.com ).A survey (...) was provided to HD participants and/or their caregivers via PatientsLikeMe (9 February 2017-22 March 2017), comprising multiple-choice and open-ended questions designed to assess how chorea impacts HRQoL and overall functioning, and the importance of treating chorea. The HDQLIFE measurement system was used to evaluate patient-reported outcomes of chorea and compare Anxiety and Stigma scores in participants with high chorea versus those with low chorea [HDQLIFE Chorea scores ≥  60 (n = 45) vs. <  60 (n = 38

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2018 The patient

16. Efficacy and Safety of SOM3355 in Huntington's Disease Chorea

Efficacy and Safety of SOM3355 in Huntington's Disease Chorea Efficacy and Safety of SOM3355 in Huntington's Disease Chorea - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Efficacy and Safety of SOM3355 (...) in Huntington's Disease Chorea The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03575676 Recruitment Status : Active, not recruiting First Posted : July 2, 2018 Last Update Posted : March 18, 2019 Sponsor: SOM Biotech SL Information provided by (Responsible Party): SOM Biotech SL Study Details Study Description

2018 Clinical Trials

17. Chorea in Sporadic Creutzfeldt-Jakob Disease (PubMed)

Chorea in Sporadic Creutzfeldt-Jakob Disease 30086616 2018 11 14 2005-940X 11 3 2018 Sep Journal of movement disorders J Mov Disord Chorea in Sporadic Creutzfeldt-Jakob Disease. 149-151 10.14802/jmd.18017 Tan Ai Huey AH Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Toh Tsun Haw TH Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Low Soon Chai SC Division

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2018 Journal of movement disorders

18. 18F-fluorodeoxyglucose positron emission tomography and magnetic resonance imaging evaluation of chorea (PubMed)

18F-fluorodeoxyglucose positron emission tomography and magnetic resonance imaging evaluation of chorea Chorea is thought to be caused by deactivation of the indirect pathway in the basal ganglia circuit. However, few imaging studies have evaluated the basal ganglia circuit in actual patients with chorea. We investigated the lesions and mechanisms underlying chorea using brain magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography (FDG-PET). This retrospective (...) case series included three patients with chorea caused by different diseases: hyperglycemic chorea, Huntington's disease, and subarachnoid hemorrhage. All the patients showed dysfunction in the striatum detected by both MRI and FDG-PET. These neuroimaging findings confirm the theory that chorea is related to an impairment of the indirect pathway of basal ganglia circuit.

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2018 Neurology international

19. An unusual presentation of dystonia and chorea from intraventricular pneumocephalus (PubMed)

An unusual presentation of dystonia and chorea from intraventricular pneumocephalus Pneumocephalus is a common finding following intracranial procedures, typically asymptomatic and resolves within several days. However, in some cases, pneumocephalus presents with headache, encephalopathy, or symptoms of elevated intracranial pressure. Here, we present a case of iatrogenic tension pneumocephalus following endoscopic sinus surgery, presenting as abnormal involuntary movements resembling (...) a movement disorder with choreiform movements.A 67-year-old previously healthy male presented with new onset chorea and dystonia associated with headache, encephalopathy, and postural instability 4 days after undergoing endoscopic sinus surgery for chronic sinusitis and nasal polyps. Computed tomography showed prominent intraventricular pneumocephalus causing enlargement of the anterior horns of both lateral ventricles with lateral displacement of the basal ganglia nuclei and a bony defect in the skull

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2018 Surgical neurology international

20. Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations (PubMed)

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations 30217939 2018 11 14 1526-632X 91 15 2018 Oct 09 Neurology Neurology Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. 710-712 10.1212/WNL.0000000000006320 Paucar Martin M From Karolinska University Hospital (M.P., A.P., C.F., M.D., J.L.-M., H.S., K.L., I.S., A. Wedell, A. Wredenberg, P.S.); Karolinska Institutet (M.P., A.P., C.F., Å.B., K.L., A. Wedell

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2018 Neurology

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