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Medicine Dec 2022Amyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare. (Review)
Review
BACKGROUND
Amyotrophic lateral sclerosis (ALS) coexisting with chorea is very rare.
CASE REPORT
We present the case of a 48-year-old man with ALS and chorea; the diagnostic certainty was high based on clinical examination results. Combining the data from literature, we analyzed the characteristics of patients with ALS and chorea. We found that ALS coexisting with chorea is very rare, but is often hereditary with a genetic mutation. Most patients with ALS and chorea are caused by abnormal amplification of a CAG sequence in the HTT gene, and these patients have a mild course of disease. The FUS, VCP, and SETX genes also have low mutation frequencies in patients with ALS and chorea.
CONCLUSION
The abnormal amplification of a CAG sequence in the HTT gene in ALS with chorea has an obvious familial genetic tendency, and most patients have a mild disease course.
Topics: Male; Humans; Middle Aged; Amyotrophic Lateral Sclerosis; Chorea; Mutation; Mutation Rate; DNA Helicases; RNA Helicases; Multifunctional Enzymes
PubMed: 36596053
DOI: 10.1097/MD.0000000000032452 -
Journal of Immunology Research 2014To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual. (Review)
Review
OBJECTIVE
To evaluate the clinical associations between rheumatic fever and antiphospholipid syndrome and the impact of coexistence of these two diseases in an individual.
METHODS
Systematic review in electronics databases, regarding the period from 1983 to 2012. The keywords: "Rheumatic Fever," "Antiphospholipid Syndrome," and "Antiphospholipid Antibody Syndrome" are used.
RESULTS
were identified 11 cases described in the literature about the association of rheumatic fever and antiphospholipid syndrome. Clinical presentation of rheumatic fever was characterized by the predominance of carditis (11/11) and chorea (7/11). Regarding the manifestations of APS, the stroke was observed in 7/11 (63.6%), with one of them having probable embolic origin.
CONCLUSION
The present study brings the information that the association between APS and RF is quite rare, however, is of great clinical importance. Doctors who deal with the RF should include in their differential diagnosis the APS, especially in the presence of stroke in patients with RF and whose echocardiogram does not show intracavitary thrombi.
Topics: Antibodies, Antiphospholipid; Antiphospholipid Syndrome; Chorea; Diagnosis, Differential; Humans; Myocarditis; Rheumatic Fever; Stroke
PubMed: 24860836
DOI: 10.1155/2014/614591 -
International Reviews of Immunology 2014The group A streptococcus, Streptococcus pyogenes, and its link to autoimmune sequelae, has acquired a new level of understanding. Studies support the hypothesis that... (Review)
Review
The group A streptococcus, Streptococcus pyogenes, and its link to autoimmune sequelae, has acquired a new level of understanding. Studies support the hypothesis that molecular mimicry between the group A streptococcus and heart or brain are important in directing immune responses in rheumatic fever. Rheumatic carditis, Sydenham chorea and a new group of behavioral disorders called pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections are reviewed with consideration of autoantibody and T cell responses and the role of molecular mimicry between the heart, brain and group A streptococcus as well as how immune responses contribute to pathogenic mechanisms in disease. In rheumatic carditis, studies have investigated human monoclonal autoantibodies and T cell clones for their crossreactivity and their mechanisms leading to valve damage in rheumatic heart disease. Although studies of human and animal sera from group A streptococcal diseases or immunization models have been crucial in providing clues to molecular mimicry and its role in the pathogenesis of rheumatic fever, study of human monoclonal autoantibodies have provided important insights into how antibodies against the valve may activate the valve endothelium and lead to T cell infiltration. Passive transfer of anti-streptococcal T cell lines in a rat model of rheumatic carditis illustrates effects of CD4+ T cells on the valve. Although Sydenham chorea has been known as the neurological manifestation of rheumatic fever for decades, the combination of autoimmunity and behavior is a relatively new concept linking brain, behavior and neuropsychiatric disorders with streptococcal infections. In Sydenham chorea, human mAbs and their expression in transgenic mice have linked autoimmunity to central dopamine pathways as well as dopamine receptors and dopaminergic neurons in basal ganglia. Taken together, the studies reviewed provide a basis for understanding streptococcal sequelae and how immune responses against group A streptococci influence autoimmunity and inflammatory responses in the heart and brain.
Topics: Animals; Autoantibodies; Autoimmunity; Basal Ganglia; Behavior; CD4-Positive T-Lymphocytes; Chorea; Cross Reactions; Disease Models, Animal; Humans; Neuroimmunomodulation; Receptors, Dopamine; Rheumatic Fever; Streptococcal Infections; Streptococcus pyogenes
PubMed: 24892819
DOI: 10.3109/08830185.2014.917411 -
Tremor and Other Hyperkinetic Movements... Aug 2020Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the... (Review)
Review
BACKGROUND
Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement Disorders Study Group provides updates on rare movement disorders.
METHODS
In this narrative review, we discuss the differential diagnosis of the rare disorders that can cause chorea.
RESULTS
Although the most common causes of chorea are hereditary, it is critical to identify acquired or symptomatic choreas since these are potentially treatable conditions. Disorders of metabolism and mitochondrial cytopathies can also be associated with chorea.
DISCUSSION
The present review discusses clues to the diagnosis of chorea of various etiologies. Authors propose algorithms to help the clinician in the diagnosis of these rare disorders.
Topics: Age of Onset; Chorea; Humans; Movement Disorders; Rare Diseases
PubMed: 32832197
DOI: 10.5334/tohm.548 -
Revista de Neurologia Jan 2009Paroxysmal dyskinesias are uncommon movements disorders that consist on recurrent brief episodes characterized by attacks with any combination of dystonia, chorea,... (Review)
Review
INTRODUCTION
Paroxysmal dyskinesias are uncommon movements disorders that consist on recurrent brief episodes characterized by attacks with any combination of dystonia, chorea, athetosis or ballismus.
DEVELOPMENT AND CONCLUSIONS
The pathophysiology of paroxysmal dyskinesias is unclear at the present time. An epileptic mechanism and basal ganglia disorders have been proposed although channelopathy due to ion channel mutations have been recently suggested. These disorders were classified by Demirkiran and Jankovic into two main groups: paroxysmal kinesigenic dyskinesia if the attacks were induced by sudden movement and paroxysmal nonkinesigenic dyskinesia if they were not. In addition to these groups, two more types have been known, namely paroxysmal exercise-induced dyskinesia and hypnogenic paroxysmal dyskinesia. As well association between benign infantile familial convulsions and paroxysmal choreoathetosis, or rolandic epilepsy, episodes of exercise induced dystonia, and writers' cramp have been described. Also others paroxysmal movements disorders have been known, we mention below. Paroxysmal dyskinesias can further be divided into idiopathic (familiar in most of the cases) or secondary cases depending on underlying cause.
Topics: Anticonvulsants; Chorea; Humans
PubMed: 19222019
DOI: No ID Found -
European Neurology 2022Diabetic striatopathy (DS), coined as a generic term, has been defined as a hyperglycemic condition associated with either one of the two following conditions:... (Review)
Review
BACKGROUND
Diabetic striatopathy (DS), coined as a generic term, has been defined as a hyperglycemic condition associated with either one of the two following conditions: chorea/ballism or striatal hyperdensity on computed tomography or striatal hyperintensity on T1-weighted magnetic resonance imaging. This review highlights those "gray areas," which need further exploration to understand better hyperglycemia-induced striatal changes and diverse movement disorder phenotypes associated with these changes.
RESULTS AND DISCUSSION
We searched in PubMed and Google Scholar the terms "diabetes mellitus," "movement disorders," "diabetic striatopathy," "chorea," "hemichorea," "ballism," "hemichorea-hemiballism," and "neuroradiology" in various combinations (time range from 1980 to March 2022). We selected the publications about our topic of discussion.
SUMMARY
Hemichorea-hemiballismus is the most commonly associated movement disorder in DS, and the putamen is the most frequently affected anatomical region. The exact pathophysiological mechanisms remain elusive. Clinical-radiological discordance is not rare. Complete reversal of symptoms with the resolution of the imaging findings is the most prevalent outcome in patients with DS. Dramatic improvement of chorea can be achieved by either insulin monotherapy or combination therapy of insulin and D2-blocker or, in some cases, even spontaneously.
CONCLUSION
The term "diabetic striatopathy" is ambiguous and controversial. Pathological mechanisms behind clinical-radiological discordance in hyperglycemia-induced striatopathy need further exploration through well-designed studies. We propose a classification of DS that includes symptomatic DS (striatal neuroimaging lesions in association with a clinically evident movement disorder and hyperglycemia), clinically isolated DS (clinically evident movement disorders without striatal changes in neuroimaging), and radiologically isolated DS.
Topics: Chorea; Diabetes Mellitus; Dyskinesias; Humans; Hyperglycemia; Insulins; Magnetic Resonance Imaging; Movement Disorders; Neuroimaging
PubMed: 35717942
DOI: 10.1159/000524936 -
British Journal of Haematology Nov 2005
Topics: Adult; Chorea; Female; Humans
PubMed: 16225646
DOI: 10.1111/j.1365-2141.2005.05644.x -
Tremor and Other Hyperkinetic Movements... 2022Chorea can be due to a large number of etiologies. Unilateral chorea is classically related to a contralateral structural lesion, e.g. of the putamen or subthalamic... (Review)
Review
BACKGROUND
Chorea can be due to a large number of etiologies. Unilateral chorea is classically related to a contralateral structural lesion, e.g. of the putamen or subthalamic nucleus, however, based upon personal impressions, we have observed that systemic disease, in particular metabolic or autoimmune conditions, can also lead to a unilateral or markedly asymmetric presentations. We sought to investigate this impression by reviewing the literature.
METHODS
A PubMed search was conducted using the terms asymmetric" AND "chorea" OR "hemichorea" OR "unilateral" AND "chorea" OR "monochorea" OR "right greater than left" AND "chorea" OR "left greater than right" AND "chorea" OR "right more than left" AND "chorea" OR "left more than right" AND "chorea" as well as "hemiballismus" NOT "stroke" NOT "infarct" NOT "dyskinesia. A total of 243 sources were felt to meet criteria and were reviewed.
RESULTS
The most common etiology of reported hemi- or asymmetric chorea was diabetic non-ketotic hyperglycemic hemichorea/hemiballismus. Other common diagnoses were Sydenham's disease, antiphospholipid syndrome and drug-induced chorea. The vast majority of patients with hemi- or asymmetric chorea had acquired rather than genetic, degenerative or congenital causes.
CONCLUSION
Despite the potential limitations of our literature review, the evidence presented here supports the observation that the vast majority of asymmetric or unilateral chorea presentations are due to acquired causes, and in this situation an exhaustive search for reversible etiology should be undertaken. However, presentation with symmetric, generalized chorea does not exclude reversible causes, and investigations should address these in addition to genetic and neurodegenerative etiologies.
Topics: Chorea; Dyskinesias; Humans; Movement Disorders; Putamen; Subthalamic Nucleus
PubMed: 35136702
DOI: 10.5334/tohm.675 -
BMJ Case Reports May 2015
Topics: Aged, 80 and over; Antipsychotic Agents; Azabicyclo Compounds; Chorea; Drug Administration Schedule; Female; Humans; Hypnotics and Sedatives; Piperazines; Pyridines; Sleep Wake Disorders; Tiapride Hydrochloride; Treatment Outcome; Zolpidem
PubMed: 25999122
DOI: 10.1136/bcr-2014-208872 -
Neurologic Clinics Aug 2009Chorea is defined as a syndrome characterized by brief, abrupt involuntary movements resulting from a continuous flow of random muscle contractions. There are genetic... (Review)
Review
Chorea is defined as a syndrome characterized by brief, abrupt involuntary movements resulting from a continuous flow of random muscle contractions. There are genetic and non-genetic causes of chorea. The most common genetic cause of chorea is Huntington's disease (HD). Non-genetic forms of chorea include vascular choreas, auto-immune choreas, metabolic and toxic choreas, and drug-induced choreas. This chapter provides an overview of clinical features, pathogenesis and management of HD, other important genetic causes of chorea, Sydenham's chorea, other autoimmune choreas and vascular choreas.
Topics: Autoimmune Diseases of the Nervous System; Chorea; Huntington Disease; Vascular Diseases
PubMed: 19555828
DOI: 10.1016/j.ncl.2009.04.001