7,721 results match your criteria Chorea in Adults

Acute rheumatic fever and erythema marginatum in an adult patient.

Proc (Bayl Univ Med Cent) 2022 22;35(4):550-551. Epub 2022 Apr 22.

Department of Dermatology, Baylor Scott and White Medical Center, Temple, Texas.

A 41-year-old woman presented for evaluation of a pruritic eruption with an abrupt onset, starting on her flanks and then spreading to her arms and legs. She had 2 weeks of fever, chills, malaise, migratory joint pain, nausea, and mental confusion. An antistreptolysin O titer was positive. Read More

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The challenges in diagnosing pediatric primary antiphospholipid syndrome.

Lupus 2022 Jun 23:9612033221108853. Epub 2022 Jun 23.

Department of Pediatric Rheumatology, Faculty of Medicine, 37515Hacettepe University, Ankara, Turkey.

Pediatric primary antiphospholipid syndrome (APS) is a very rare disease with significant distinctions from the APS in adults. Herein, we present our experience in the diagnosis and treatment of six pediatric primary APS patients, who met the updated Sapporo criteria for the APS diagnosis. One of them was also diagnosed as having probable catastrophic APS (CAPS) due to the involvement of three different organ systems simultaneously. Read More

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One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.

Biomedicines 2022 May 26;10(6). Epub 2022 May 26.

Department of Rheumatology, Emergency Clinical County Hospital Cluj, Centre for Rare Autoimmune and Autoinflammatory Diseases (ERN-ReCONNET), 400347 Cluj-Napoca, Romania.

Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the gene, impairing passive glucose transport across the blood-brain barrier. All age groups, from infants to adults, may be affected, with age-specific symptoms. Read More

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Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ): Time to Move Beyond the Skin.

Mov Disord 2022 Jun 14. Epub 2022 Jun 14.

Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.

Background: Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest with photosensitivity and skin cancer, but also developmental delay and early-onset neurological degeneration. Adult-onset neurological features have been reported in only a few xeroderma pigmentosum cases, all showing at least mild skin manifestations. Read More

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Clinical and Radiological Follow-Up of a Pfizer-BioNTech COVID-19 Vaccine-Induced Hemichorea-Hemiballismus; Insights Into Mechanisms of Basal Ganglia Dysfunction.

Tremor Other Hyperkinet Mov (N Y) 2022 18;12:17. Epub 2022 May 18.

Department of Neurology, James J. Peters Veterans Affairs Medical Center, US.

Asymmetric chorea unrelated to structural lesions is typically due to systemic etiologies, such as metabolic, autoimmune, or other inflammatory disorders. This is an editorial commenting on a paper by Batot C, Chea M, Zeidan S, et al. Clinical and radiological follow up of Pfizer-BioNTech COVID-19 vaccine-induced hemichorea-hemiballismus. Read More

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Clinical and Radiological Follow-Up of a Pfizer-BioNTech COVID-19 Vaccine-Induced Hemichorea-Hemiballismus.

Tremor Other Hyperkinet Mov (N Y) 2022 18;12:16. Epub 2022 May 18.

Neurology Unit, AP-HP, Avicenne University Hospital, Sorbonne Paris Nord, Bobigny, France.

Background: Hemichorea-hemiballismus is a rare hyperkinetic movement disorder.

Case Report: A 90-year-old male developed left hemichorea-hemiballismus after his second dose of the Pfizer-BioNTech COVID-19 vaccine. A wide range of investigations including magnetic resonance imaging did not reveal an alternative cause. Read More

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Phospholipid Profiles Are Selectively Altered in the Putamen and White Frontal Cortex of Huntington's Disease.

Nutrients 2022 May 16;14(10). Epub 2022 May 16.

Illawarra Health and Medical Research Institute, University of Wollongong, Wollongong 2522, Australia.

Huntington's disease (HD) is a genetic, neurodegenerative illness that onsets in late adulthood as a series of progressive and terminal cognitive, motor, and psychiatric deficits. The disease is caused by a polyQ mutation in the Huntingtin gene (), producing a polyglutamine expansion in the Huntingtin protein (HTT). HTT interacts with phospholipids in vitro; however, its interactions are changed when the protein is mutated in HD. Read More

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Healthcare resource utilization and costs in individuals with Huntington's disease by disease stage in a US population.

J Med Econ 2022 Jan-Dec;25(1):722-729

CHDI Management/CHDI Foundation, Princeton, NJ, USA.

Aims: To quantify healthcare resource utilization (HRU) and costs by disease stage in individuals with Huntington's disease (HD) in a US population.

Materials And Methods: This retrospective cohort study used administrative claims data from the IBM MarketScan Commercial, Multi-State Medicaid, and Medicare Supplemental Databases between 1 January 2009 and 31 December 2018. Individuals with an HD claim between 1 January 2010 and 31 December 2017 were selected. Read More

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Intermediate alleles of HTT: A new pathway in longevity.

J Neurol Sci 2022 Jul 4;438:120274. Epub 2022 May 4.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy. Electronic address:

Centenarians are the best example of successful aging, reaching extreme longevity escaping age-related diseases. Genome sequencing studies provided evidence for genetic factors linked to heathy long life, including genes related to age-dependent diseases. HTT (Huntingtin) gene is linked to Huntington's Disease, but also associated to longevity in capuchins and mice. Read More

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What did we learn from neural grafts in Huntington disease?

Rev Neurol (Paris) 2022 May 28;178(5):441-449. Epub 2022 Apr 28.

Département d'études cognitives, école normale supérieure, PSL University, 75005 Paris, France; Inserm U955, Institut Mondor de Recherche Biomédicale, Equipe E01 NeuroPsychologie Interventionnelle, 94000 Créteil, France; Faculté de médecine, Université Paris-Est Créteil, 94000 Créteil, France; Assistance Publique-Hôpitaux de Paris, National Reference Center for Huntington's Disease, Neurology Department, Henri Mondor-Albert Chenevier Hospital, Créteil, France. Electronic address:

Huntington's disease is a rare, severe, and inherited neurodegenerative disorder that affects young adults. To date, there is no treatment to stop its progression. The primary atrophy of the striatum in HD, is limited in space and centrally focalised in the brain and thus constitutes a good candidate for graft. Read More

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Rare clinical manifestations in systemic lupus erythematosus: a review on frequency and clinical presentation.

Clin Exp Rheumatol 2022 May 29;40 Suppl 134(5):93-102. Epub 2022 Apr 29.

Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana, and Department of Clinical and Experimental Medicine, University of Pisa, Italy.

Objectives: The purpose of this study was to review the frequency and clinical presentation of the rarest clinical manifestations of systemic lupus erythematosus (SLE).

Methods: A list of 6 rare SLE manifestations were defined: gastrointestinal, liver, pulmonary, cardiac, ocular and neurological manifestations. Each topic was assigned to a pair of authors to perform a literature search and article review. Read More

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Paroxysmal dyskinesia and electrodermal volatility: The role of mindfulness, self-compassion and psychophysiological interventions.

Appl Neuropsychol Adult 2022 Apr 24:1-12. Epub 2022 Apr 24.

Kashan University of Medical Sciences and Health Services, Kashan, Iran.

To date, there are no behavioral or psychophysiological treatment studies on paroxysmal dyskinesia (PD). PD is a group of debilitating movement disorders that present with severe episodes of dystonia, chorea, and/or ballistic like movements. This is a first case report of a 50-year-old male who received behavioral interventions (e. Read More

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Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.

Acta Neuropathol Commun 2022 04 8;10(1):49. Epub 2022 Apr 8.

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. This places XDP in a broader class of repeat expansion diseases, characterized by the instability of their causative repeat mutations. Read More

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Huntington's disease influences employment before and during clinical manifestation: A systematic review.

Parkinsonism Relat Disord 2022 03 16;96:100-108. Epub 2022 Mar 16.

Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.

Huntington's disease (HD) is an inherited neurodegenerative disease. People at risk for HD can choose to get predictive testing years before the clinical onset. HD is characterized by motor, cognitive and psychiatric symptoms and has a mean age at onset between 30 and 50 years, an age at which people are usually still working. Read More

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Disease Burden of Huntington's Disease (HD) on People Living with HD and Care Partners in Canada.

J Huntingtons Dis 2022 ;11(2):179-193

Parkinson's Disease and Movement Disorders Centre, Division of Neurology, Department of Medicine, The Ottawa Hospital Research Institute, University of Ottawa Brain and Mind Research Institute, Ottawa, ON, Canada.

Background: Huntington's disease (HD) has been shown to reduce health-related quality of life (HRQoL) and affect healthcare resource utilization (HRU) among patients and care partners internationally but has not been studied specifically in the Canadian context.

Objective: To characterize the burden of HD on individuals with HD and care partners of individuals with HD in Canada.

Methods: An online survey was distributed (September 14-November 23, 2020) through patient organizations to collect data on demographic and clinical characteristics, as well as: HRQoL, measured using the 36-Item Short-Form Health Survey (SF-36v1); HRU, measured using the Client Service Receipt Inventory (CSRI); and care partner burden, measured using the Caregiver Strain Index (CSI) and Huntington's Disease Quality of Life Battery for Carers (HDQoL-C). Read More

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A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations.

Parkinsonism Relat Disord 2022 05 17;98:114-117. Epub 2022 Mar 17.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

The etiologies for adults presenting with hemiballism are usually acquired lesions in the contralateral side of subthalamic nucleus. We present a 71-year-old woman with progressive onset of left hemiballism, orolingual dyskinesia and cognitive decline for 3 years. A rare genetic etiology was the final diagnosis for this index patient. Read More

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Reversible Hemichorea with Severe Carotid Stenosis.

Neurol India 2022 Jan-Feb;70(1):415-418

Department of Neurology, Vikram Hospital, Miller's Road, Bengaluru, Karnataka, India.

Background: We report a 74-year-old lady with hemichorea of 6 months duration due to severe carotid stenosis without cerebral infarction. Electroencephalography and single-photon emission computed tomography studies suggested hemispheric abnormality. Hemichorea resolved following carotid endarterectomy. Read More

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Diminished LC3-Associated Phagocytosis by Huntington's Disease Striatal Astrocytes.

J Huntingtons Dis 2022 ;11(1):25-33

Biomedical Engineering, Beckman Laser Institute, University of California, Irvine, Irvine, CA, USA.

Background: In recent years the functions of astrocytes have shifted from conventional supportive roles to also include active roles in altering synapses and engulfment of cellular debris. Recent studies have implicated astrocytes in both protective and pathogenic roles impacting Huntington's disease (HD) progression.

Objective: The goal of this study is to determine if phagocytosis of cellular debris is compromised in HD striatal astrocytes. Read More

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Geographic Barriers Drive Disparities in Specialty Center Access for Older Adults with Huntington's Disease.

J Huntingtons Dis 2022 ;11(1):81-89

Center for Pharmacoepidemiology Research and Training, Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Background: Huntington's Disease Society of America Centers of Excellence (HDSA COEs) are primary hubs for Huntington's disease (HD) research opportunities and accessing new treatments. Data on the extent to which HDSA COEs are accessible to individuals with HD, particularly those older or disabled, are lacking.

Objective: To describe persons with HD in the U. Read More

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Inhibitory control, working memory and coping with stress: Associations with symptoms of anxiety and depression in adults with Huntington's disease.

Neuropsychology 2022 May 24;36(4):288-296. Epub 2022 Feb 24.

Department of Psychology and Human Development.

Objective: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by neuropsychiatric symptoms (e.g., anxiety and depression), where individuals suffer high levels of stress from the social, physical, and cognitive burden of the disease. Read More

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Clonal lineage tracing reveals shared origin of conventional and plasmacytoid dendritic cells.

Immunity 2022 03 17;55(3):405-422.e11. Epub 2022 Feb 17.

Department of Pathology, New York University Grossman School of Medicine, New York, NY 10016, USA. Electronic address:

Developmental origins of dendritic cells (DCs) including conventional DCs (cDCs, comprising cDC1 and cDC2 subsets) and plasmacytoid DCs (pDCs) remain unclear. We studied DC development in unmanipulated adult mice using inducible lineage tracing combined with clonal DNA "barcoding" and single-cell transcriptome and phenotype analysis (CITE-seq). Inducible tracing of Cx3cr1 hematopoietic progenitors in the bone marrow showed that they simultaneously produce all DC subsets including pDCs, cDC1s, and cDC2s. Read More

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Primary antiphospholipid syndrome in pediatrics: beyond thrombosis. Report of 32 cases and review of the evidence.

Pediatr Rheumatol Online J 2022 Feb 14;20(1):13. Epub 2022 Feb 14.

Research Unit in Immunology and Infectology, National Medical Center La Raza, IMSS, Mexico City, México.

Objective: Describe the frequency of thrombotic and non-thrombotic clinical manifestations, laboratory, treatment and prognosis in patients with pediatric primary antiphospholipid syndrome.

Material And Methods: A retrospective study was carried out in patients with a diagnosis of primary antiphospholipid antibody syndrome, under 16 years of age, under follow-up by the pediatric rheumatology service of the General Hospital, National Medical Center, La Raza, from January 2013 to December 2020. The antiphospholipid syndrome was defined when it met the laboratory criteria of the Sidney criteria and the presence of thrombosis or non-criteria manifestations of the disease (hematological, neurological, cutaneous, renal, cardiac or pulmonary). Read More

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February 2022

Retinoic acid receptor beta protects striatopallidal medium spiny neurons from mitochondrial dysfunction and neurodegeneration.

Prog Neurobiol 2022 05 10;212:102246. Epub 2022 Feb 10.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France; Inserm, U 1258, 67404 Illkirch, France; CNRS UMR 7104, 67404 Illkirch, France; Université de Strasbourg, 67404 Illkirch, France. Electronic address:

Retinoic acid is a powerful regulator of brain development, however its postnatal functions only start to be elucidated. We show that retinoic acid receptor beta (RARβ), is involved in neuroprotection of striatopallidal medium spiny neurons (spMSNs), the cell type affected in different neuropsychiatric disorders and particularly prone to degenerate in Huntington disease (HD). Accordingly, the number of spMSNs was reduced in the striatum of adult Rarβ mice, which may result from mitochondrial dysfunction and neurodegeneration. Read More

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Two case reports of chorea-acanthocytosis and review of literature.

Eur J Med Res 2022 Feb 7;27(1):22. Epub 2022 Feb 7.

Department of Neurology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.

Background: Chorea-acanthocytosis (ChAc), as the most common subtype of neuroacanthocytosis syndrome, is characterized by the presence of acanthocytes and neurological symptoms. It is thought to be caused by the VPS13A (vacuolar protein sorting-associated protein 13A) mutations. This article reports two confirmed cases of ChAc and summarizes some suggestive features, which provide direction for the diagnosis and treatment of acanthocytosis in the future. Read More

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February 2022

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Neurogenetics 2022 04 25;23(2):91-102. Epub 2022 Jan 25.

Ataxia Centre, Department of Clinical and Motor Neuroscience, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Benign hereditary chorea (BHC) is a rare genetically heterogeneous movement disorder, in which conventional neuroimaging has been reported as normal in most cases. Cystic pituitary abnormalities and features of empty sella have been described in only 7 patients with BHC to date. We present 4 patients from 2 families with a BHC phenotype, 3 of whom underwent targeted pituitary MR imaging and genetic testing. Read More

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Epidemiology and economic burden of Huntington's disease: a Canadian provincial public health system perspective.

J Med Econ 2022 Jan-Dec;25(1):212-219

Parkinson's Disease and Movement Disorders Centre, Division of Neurology, Department of Medicine, The Ottawa Hospital Research Institute, University of Ottawa Brain and Mind Research Institute, Ottawa, Canada.

Aims: To evaluate the epidemiology, healthcare resource utilization, and direct healthcare costs associated with Huntington's disease in a Canadian setting with a universal healthcare system.

Materials And Methods: Using Albertan administrative health data, a retrospective cohort was identified applying an algorithm requiring two HD diagnostic codes within two years, using the first record as the index date (i.e. Read More

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February 2022

Negative symptoms in Huntington's disease.

Neurol Sci 2022 Jun 24;43(6):3695-3701. Epub 2022 Jan 24.

Parkinson and Movement Disorders Unit, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy.

Background: Apathy is the commonest psychiatric manifestation in Huntington's disease (HD). We investigated negative psychiatric symptoms-as determined by the Scale for the Assessment of Negative Psychiatric Symptoms (SANS)-in early and intermediate HD patients, hypothesizing that such symptoms would be prominent and constitute a more comprehensive and clinically relevant assessment than apathy alone. We also assessed relations between negative symptoms and disease stage, mood, motor, and cognitive disturbances. Read More

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The three sisters of fate: Genetics, pathophysiology and outcomes of animal models of neurodegenerative diseases.

Neurosci Biobehav Rev 2022 04 19;135:104541. Epub 2022 Jan 19.

Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; Island Medical Program, UBC Faculty of Medicine and University of Victoria, Victoria, BC, Canada; Division of Medical Sciences, University of Victoria, Victoria, BC, Canada. Electronic address:

Alzheimer's disease (AD), Parkinson's disease (PD), and Huntington's disease (HD) are neurodegenerative disorders characterized by progressive structural and functional loss of specific neuronal populations, protein aggregation, an insidious adult onset, and chronic progression. Modeling AD, PD, and HD in animal models is useful for studying the relationship between neuronal dysfunction and abnormal behaviours. Animal models are also excellent tools to test therapeutic approaches. Read More

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Motor cortex plasticity response to acute cardiorespiratory exercise and intermittent theta-burst stimulation is attenuated in premanifest and early Huntington's disease.

Sci Rep 2022 01 20;12(1):1104. Epub 2022 Jan 20.

School of Psychological Sciences and Turner Institute for Brain and Mental Health, Monash University, Clayton, VIC, Australia.

Huntington's disease (HD) mouse models suggest that cardiovascular exercise may enhance neuroplasticity and delay disease signs, however, the effects of exercise on neuroplasticity in people with HD are unknown. Using a repeated-measures experimental design, we compared the effects of a single bout of high-intensity exercise, moderate-intensity exercise, or rest, on motor cortex synaptic plasticity in 14 HD CAG-expanded participants (9 premanifest and 5 early manifest) and 20 CAG-healthy control participants, using transcranial magnetic stimulation. Measures of cortico-motor excitability, short-interval intracortical inhibition and intracortical facilitation were obtained before and after a 20-min bout of either high-intensity interval exercise, moderate-intensity continuous exercise, or rest, and again after intermittent theta burst stimulation (iTBS). Read More

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January 2022

Timing of selective basal ganglia white matter loss in premanifest Huntington's disease.

Neuroimage Clin 2022 6;33:102927. Epub 2022 Jan 6.

Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG, UK; Dementia Research Institute at UCL, London WC1N 3BG, UK. Electronic address:

Objectives: To investigate the timeframe prior to symptom onset when cortico-basal ganglia white matter (white matter) loss begins in premanifest Huntington's disease (preHD), and which striatal and thalamic sub-region white matter tracts are most vulnerable.

Methods: We performed fixel-based analysis, which allows resolution of crossing white matter fibres at the voxel level, on diffusion tractography derived white matter tracts of striatal and thalamic sub-regions in two independent cohorts; TrackON-HD, which included 72 preHD (approx. 11 years before disease onset) and 85 controls imaged at three time points over two years; and the HD young adult study (HD-YAS), which included 54 preHD (approx. Read More

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