7,504 results match your criteria Chorea in Adults

Adult-onset sporadic chorea: real-world data from a single-centre retrospective study.

Neurol Sci 2021 May 26. Epub 2021 May 26.

Unit of Neurology, Department of Systems Medicine, University of Rome "Tor Vergata", Via Montpellier, 00133, Rome, Italy.

Background: Adult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive.

Objectives: To analyse retrospectively cases of adult-onset sporadic chorea from a single Italian centre to provide insights for a practical approach in the management of these patients.

Methods: A total of 11,071 medical charts from a 9-year period (2012-2020) were reviewed, identifying 28 patients with adult-onset sporadic chorea (genetic forms excluded). Read More

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Genetic Screen in Adult Drosophila Reveals That dCBP Depletion in Glial Cells Mitigates Huntington Disease Pathology through a Foxo-Dependent Pathway.

Int J Mol Sci 2021 Apr 9;22(8). Epub 2021 Apr 9.

Unité de Biologie Fonctionnelle et Adaptative (BFA), Université de Paris-CNRS, UMR8251 4 rue Marie Andrée Lagroua Weill Halle, CEDEX 13, 75205 Paris, France.

Huntington's disease (HD) is a progressive and fatal autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the first exon of the huntingtin gene (). In spite of considerable efforts, there is currently no treatment to stop or delay the disease. Although is expressed ubiquitously, most of our knowledge has been obtained on neurons. Read More

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A series of cases with Huntington-like phenotype and intermediate repeats in HTT.

J Neurol Sci 2021 06 16;425:117452. Epub 2021 Apr 16.

Instituto de Investigación Sanitaria del Principado de Asturias, Spain; Servicio de Genética, Hospital Universitario Central de Asturias, Spain.

Background: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.

Methods: We reviewed the medical records of cases in our centre where the neurologist suspected Huntington's disease (HD) as one of the feasible diagnoses and genetic testing showed the number of CAG repeats was in the "intermediate range". Read More

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Late-onset Huntington disease: An Italian cohort.

J Clin Neurosci 2021 Apr 27;86:58-63. Epub 2021 Jan 27.

Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset after the age of 59 years. The aim of the present study is to investigate the clinical-demographic features of Late-onset HD population (LoHD) in comparison to Classic-onset patients (CoHD). Read More

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Dissolving the Complex Role Aggregation Plays in Neurodegenerative Disease.

Mov Disord 2021 05 23;36(5):1061-1069. Epub 2021 Mar 23.

Departments of Neurology, Pathology and Cell Biology, Columbia University, New York, New York, USA.

Prominent neuropathological hallmarks of many adult-onset neurodegenerative diseases include the deposition and accumulation of misfolded proteins or conformers; however, their role in pathogenesis has remained unclear. This is in part due to the deceptive simplicity of the question and our limited understanding of how protein homeostasis is maintained in the compartmentalized cells of the central nervous system, especially in the context of the adult brain. Building on studies from simple cell-based systems and invertebrate animals, we recently identified a protein central to the specific and selective turnover of aggregated proteins in the adult brain, the autophagy-linked FYVE protein (Alfy)/Wdfy3. Read More

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Improvement in mild anti-IgLON5 encephalopathy without immunotherapy: a case report.

BMC Neurol 2021 Mar 17;21(1):120. Epub 2021 Mar 17.

Department of Neurology, Tangshan Gongren Hospital, 27 Wenhua Road, Tangshan, 063000, Hebei, People's Republic of China.

Background: Anti-IgLON5 antibody-related encephalopathy is a recently discovered and rare autoimmune disease, and its diagnosis and treatment are more challenging than for other autoimmune encephalopathic diseases. Sleep disorder is the most prominent symptom of the disease. It can also present with gait instability, dysarthria, dysphagia, dementia, ataxia, autonomic nervous system dysfunction, chorea, vertical gaze paralysis, and other symptoms. Read More

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Acute chorea in adults: old and new truths.

Arq Neuropsiquiatr 2021 03;79(3):187-188

Universidade Federal de Minas Gerais, Movement Disorders Unit, Neurology Service, Department of Internal Medicine, Belo Horizonte MG, Brazil.

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Acute Rheumatic Fever: Where Do We Stand? An Epidemiological Study in Northern Italy.

Front Med (Lausanne) 2021 24;8:621668. Epub 2021 Feb 24.

Department of Pediatrics, Desio Hospital, Azienda Socio Sanitaria Territoriale Monza, Monza, Italy.

Acute rheumatic fever (ARF) is a non-septic complication of group A β-hemolytic streptococcal (GAS) throat infection. Since 1944, ARF diagnosis relies on the Jones criteria, which were periodically revised. The 2015 revision of Jones criteria underlines the importance of knowing the epidemiological status of its own region with updated data. Read More

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February 2021

Clinical development of valbenazine for tics associated with Tourette syndrome.

Expert Rev Neurother 2021 Apr 1;21(4):393-404. Epub 2021 Apr 1.

Medical Affairs, Neurocrine Biosciences, Inc., San Diego, CA, USA.

: Significant need exists for effective, well-tolerated pharmacologic treatments for Tourette syndrome (TS). Medications that inhibit vesicular monoamine transporters (i.e. Read More

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Clinical variables that help in predicting the presence of autoantibodies in patients with acute encephalitis.

Seizure 2021 Feb 24. Epub 2021 Feb 24.

Department of Neurology, FCM, University of Campinas (UNICAMP), and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, SP, Brazil. Electronic address:

Objective: To identify clinical variables that could predict the presence of autoantibodies in patients with acute encephalitis.

Methods: An observational, retrospective study from May 2011 to May 2017. Clinical, EEG, brain MRI data, and antibodies against human neuronal antigens (NMDAR, GABAR, AMPAR, LGI1, CASPR2, and GAD) from 158 patients with criteria for possible autoimmune encephalitis were analyzed to create a predictive model for this disease. Read More

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February 2021

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington's disease.

BMC Neurol 2021 Feb 18;21(1):79. Epub 2021 Feb 18.

Department of Neurology, University of Szeged, 6 Semmelweis Street, Szeged, 6725, Hungary.

Background: Recent advances in therapeutic options may prevent deterioration related to Huntington's disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring outcome. Accordingly, the aim of this study was to describe the characteristics of a Hungarian subpopulation of HD patients and mutation carriers diagnosed at the University of Szeged. Read More

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February 2021

Risk factors and prognosis of adult-onset post-pump chorea.

J Neurol Sci 2021 Mar 23;422:117328. Epub 2021 Jan 23.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Republic of Korea; Neuroscience Center, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Republic of Korea. Electronic address:

Objectives: Post-pump chorea (PPC), defined as the development of chorea after major cardiac surgery utilizing cardiopulmonary bypass (CPB), has been rarely reported in adults.

Methods: We compared 17 patients with adult-onset PPC to controls who did not develop chorea after cardiac surgery with CPB. Two patients were enrolled using hospital based data and 15 were collected by a systematic literature review. Read More

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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

Neurology 2021 03 25;96(9):e1369-e1382. Epub 2021 Jan 25.

From the Department of Neurodegenerative Diseases (A.T., S.R., L.S., M. Synofzik), Hertie-Institute for Clinical Brain Research and Center of Neurology, and German Center for Neurodegenerative Diseases (DZNE) (A.T., S.R., L.S., M. Synofzik), University of Tübingen, Germany; MRC Centre for Neuromuscular Diseases (A.C., N.D., H.H.), Department of Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK; Department of Brain and Behaviour Sciences (A.C.), University Pavia, Italy; Department of Neurology (J.F., T.K.), University Hospital Bonn; German Center for Neurodegenerative Diseases (DZNE) (J.F., H.J., T.K.), Bonn; Department of Neurology (H.J.), University Hospital of Heidelberg; Department of Psychiatry, Psychotherapy and Psychosomatics (A.M.H., D.R.), University of Halle, Germany; Département de Neurologie (S.M., M.A.), Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg; Department of Neurology (A.E.-L.), APHP, CHU de Bicêtre; French National Reference Center for Rare Neuropathies (NNERF) (A.E.-L.); Inserm U1195 and Paris-Sud University (A.E.-L.), Le Kremlin Bicêtre, France; Medical Faculty (S.E.), Department of Neurology, Uludag University, Bursa, Turkey; University of Zurich (V.C.S., A.A.T.); Department of Neurology (V.C.S., A.A.T.), University Hospital Zurich, Switzerland; Institute of Medical Genetics and Applied Genomics (M. Sturm, T.B.H.) and Center for Rare Diseases (T.B.H.), University of Tübingen, Germany; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (N.V.-D., H.P.); INSERM (N.V.-D., H.P.), U1258; CNRS (N.V.-D., H.P.), UMR7104, Illkirch; Université de Strasbourg (H.P.), France; Department of Neurology (B.P.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (M.P.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P.), Karolinska Institute, Stockholm, Sweden; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen; Department of Medical Statistics (R.-D.H.), RWTH Aachen University, Germany; Department of Neurology (J.G.), Hospital Universitario Miguel Servet. Zaragoza, Spain; Department of Neurology (M. Strupp), University Hospital, and German Center for Vertigo and Balance Disorders (M.Strupp), Ludwig Maximilians University, Munich, Germany; Neurology Service (G.M.), Hospital Unversitario Central de Asturias (HUCA), SESPA, Oviedo, Spain; Department of Neurosciences and Reproductive and Odontostomatological Sciences (A.F.), Federico II University Naples, Italy; Institute of Genetics and Molecular and Cellular Biology (M.A.), INSERM-U964/CNRS-UMR7104, University of Strasbourg, Illkirch; Strasbourg Federation of Translational Medicine (M.A.), University of Strasbourg, Strasbourg, France; Service of Neurology (J.I.), University Hospital "Marqués de Valdecilla (IDIVAL)," University of Cantabria, "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)," Santander, Spain; and Suna and Inan Kıraç Foundation (A.N.B.), Neurodegeneration Research Laboratory, KUTTAM, Koç University School of Medicine, Istanbul, Turkey.

Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).

Methods: Multimodal repeat screening (PCR, Southern blot, whole-exome/genome sequencing-based approaches) combined with cross-sectional and longitudinal deep phenotyping in (1) cross-European cohort A (70 families) with ≥2 features of CANVAS or ataxia with chronic cough (ACC) and (2) Turkish cohort B (105 families) with unselected late-onset ataxia.

Results: Prevalence of RFC1 disease was 67% in cohort A, 14% in unselected cohort B, 68% in clinical CANVAS, and 100% in ACC. Read More

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A case of hemichorea in RNF213-related vasculopathy.

BMC Neurol 2021 Jan 22;21(1):32. Epub 2021 Jan 22.

Department of Neurology, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shimmachi, Suita, Osaka, 564-8565, Japan.

Background: Internal carotid artery (ICA) stenosis has been recently reported to cause hemichorea, mainly in East Asia. The East Asian-specific p.R4810K variant of RNF213, a susceptibility gene for moyamoya disease (MMD), accounts for up to 25% of sporadic ischemic stroke with ICA stenosis cases in East Asia. Read More

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January 2021

Htt is a repressor of Abl activity required for APP-induced axonal growth.

PLoS Genet 2021 01 19;17(1):e1009287. Epub 2021 Jan 19.

IGH, Centre National de la Recherche Scientifique, Univ Montpellier, Montpellier, France.

Huntington's disease is a progressive autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine tract at the N-terminus of a large cytoplasmic protein. The Drosophila huntingtin (htt) gene is widely expressed during all developmental stages from embryos to adults. However, Drosophila htt mutant individuals are viable with no obvious developmental defects. Read More

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January 2021

Chorea as a paraneoplastic syndrome heralding the transformation of non-Hodgkin lymphoma.

Med J Aust 2021 02 13;214(3):114-115.e1. Epub 2021 Jan 13.

Eastern Health Foundation, Melbourne, VIC.

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February 2021

Gaining insight into the views of outpatients with Huntington's disease regarding their future and the way they deal with their poor prognosis: a qualitative study.

BMC Palliat Care 2021 Jan 12;20(1):12. Epub 2021 Jan 12.

Department of Public and Occupational Health, Amsterdam Public Health Research Institute (APH), Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Background: Huntington's disease (HD) has a poor prognosis. Decision-making capacity and communication ability may become lost as the disease progresses. Therefore, HD patients are encouraged to engage in advance care planning (ACP). Read More

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January 2021

The Impact of Pediatric Basal Ganglia Stroke on Mental Health in Children: Report of 2 Cases.

Child Neurol Open 2020 Jan-Dec;7:2329048X20979248. Epub 2020 Dec 15.

Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Background: The impact of basal ganglia stroke on mental health is better described in adults than in children. We report 2 children with significant mental health issues after basal ganglia stroke.

Case Reports: Patient 1, an 8-year-old boy, had mild anxiety before his left basal ganglia stroke. Read More

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December 2020

Huntington's disease in Turkey: genetic counseling, clinical features, and outcome.

Neurol Res 2021 May 30;43(5):381-386. Epub 2020 Dec 30.

University of Health Sciences (Turkey) Ankara City Hospital Huntington's Disease Multidisciplinary Team (MDT), Ankara, Turkey.

: This study aims to report the data of genetic counseling and to identify the clinical features of Turkish Huntington's disease (HD) patients and to investigate its possible relationship with genetic data.: A regular weekly outpatient clinic has been held routinely since January 2018. Patients and their referred relatives have been evaluated regarding clinical features and genetic counseling. Read More

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Necessary impairments? The downside of functional compensation in frontostriatal circuits in people with presymptomatic Huntingt-on's- di-sease.

J Neurol Neurosurg Psychiatry 2021 02 28;92(2):120-121. Epub 2020 Dec 28.

National Institute for Health Research Bristol Biomedical Research Centre, University of Bristol, Bristol BS8 2BN, UK

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February 2021

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

Ann Neurol 2021 03 24;89(3):573-586. Epub 2020 Dec 24.

Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.

Objective: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A (GABA ) receptor subunit β2.

Methods: We recruited and systematically evaluated 25 individuals with variants in GABRB2, 17 of whom are newly described and 8 previously reported with additional clinical data. Functional analysis was performed using a Xenopus laevis oocyte model system. Read More

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Mutant Huntingtin Is Cleared from the Brain via Active Mechanisms in Huntington Disease.

J Neurosci 2021 01 11;41(4):780-796. Epub 2020 Dec 11.

Burnett School of Biomedical Sciences, University of Central Florida, Orlando, Florida 32828

Huntington disease (HD) is a neurodegenerative disease caused by a CAG trinucleotide repeat expansion in the huntingtin () gene. Therapeutics that lower HTT have shown preclinical promise and are being evaluated in clinical trials. However, clinical assessment of brain HTT lowering presents challenges. Read More

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January 2021

Benefits of nonlinear analysis indices of walking stride interval in the evaluation of neurodegenerative diseases.

Hum Mov Sci 2021 Feb 9;75:102741. Epub 2020 Dec 9.

Centre de recherche et de formation (CeREF Technique), Haute Ecole Louvain en Hainaut, 7000 Mons, Belgium; Laboratoire Forme et Fonctionnement Humain (FFH), Haute Ecole Louvain en Hainaut, 6061 Montignies-sur-Sambre, Belgium; Service de Physique Nucléaire et Subnucléaire, Université de Mons, UMONS Research Institute for Complex Systems, 7000 Mons, Belgium.

Indices characterising the long-range temporal structure of walking stride interval (SI) variability such as Hurst exponent (H) and fractal dimension (D) may be used in addition to indices measuring the amount of variability like the coefficient of variation (CV). We assess the added value of the former indices in a clinical neurological context. Our aim is to demonstrate that they provide a clinical significance in aging and in frequent neurodegenerative diseases such as Parkinson's disease, Huntington, and amyotrophic lateral sclerosis. Read More

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February 2021

Cross-sectional analysis of plasma and CSF metabolomic markers in Huntington's disease for participants of varying functional disability: a pilot study.

Sci Rep 2020 11 24;10(1):20490. Epub 2020 Nov 24.

Biomedical Research Center, National Institute On Aging, National Institutes of Health, Baltimore, MD, 21224, USA.

Huntington's Disease (HD) is a progressive, fatal neurodegenerative condition. While generally considered for its devastating neurological phenotype, disturbances in other organ systems and metabolic pathways outside the brain have attracted attention for possible relevance to HD pathology, potential as therapeutic targets, or use as biomarkers of progression. In addition, it is not established how metabolic changes in the HD brain correlate to progression across the full spectrum of early to late-stage disease. Read More

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November 2020

[A case of anti-SRY-Related HMG-Box Gene 1 (SOX1) antibody-positive chorea].

Rinsho Shinkeigaku 2020 Dec 20;60(12):852-856. Epub 2020 Nov 20.

Department of Neurology, Akita Red Cross Hospital.

A 77-year-old man with a history of lung cancer at the age of 71 developed involuntary right leg movement for a month. Neurological examination revealed a right-sided hemi-chorea. Autoimmune disease was suspected owing to the presence of oligoclonal bands and the elevated IgG-index in the cerebrospinal fluid. Read More

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December 2020

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.

BMC Med Genet 2020 11 23;21(1):233. Epub 2020 Nov 23.

Departamento de Genética. Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet. C/ Padre Arrupe, s/n. Consultas Externas. Planta 3ª. 50009, Zaragoza, Spain.

Background: Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Read More

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November 2020

Disease-related Huntingtin seeding activities in cerebrospinal fluids of Huntington's disease patients.

Sci Rep 2020 11 20;10(1):20295. Epub 2020 Nov 20.

Center for Neurobehavioral Genetics, The Jane and Terry Semel Institute for Neuroscience & Human Behavior, University of California, Los Angeles, Los Angeles, USA.

In Huntington's disease (HD), the mutant Huntingtin (mHTT) is postulated to mediate template-based aggregation that can propagate across cells. It has been difficult to quantitatively detect such pathological seeding activities in patient biosamples, e.g. Read More

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November 2020

Cholesteryl ester levels are elevated in the caudate and putamen of Huntington's disease patients.

Sci Rep 2020 11 20;10(1):20314. Epub 2020 Nov 20.

Illawarra Health and Medical Research Institute, Wollongong, NSW, 2522, Australia.

Huntington's disease (HD) is an autosomal dominant neurodegenerative illness caused by a mutation in the huntingtin gene (HTT) and subsequent protein (mhtt), to which the brain shows a region-specific vulnerability. Disturbances in neural cholesterol metabolism are established in HD human, murine and cell studies; however, cholesteryl esters (CE), which store and transport cholesterol in the brain, have not been investigated in human studies. This study aimed to identify region-specific alterations in the concentrations of CE in HD. Read More

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November 2020

Gene Expression Profiling in Huntington's Disease: Does Comorbidity with Depressive Symptoms Matter?

Int J Mol Sci 2020 Nov 11;21(22). Epub 2020 Nov 11.

Neuropsychiatry Program, Louis A Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77054, USA.

Huntington's disease (HD) is an inherited neurodegenerative disease. Besides the well-characterized motor symptoms, HD is marked by cognitive impairment and behavioral changes. In this study, we analyzed the blood of HD gene carries using RNA-sequencing techniques. Read More

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November 2020

GPR52 Antagonist Reduces Huntingtin Levels and Ameliorates Huntington's Disease-Related Phenotypes.

J Med Chem 2021 01 13;64(2):941-957. Epub 2020 Nov 13.

State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, 555 Zuchongzhi Road, Shanghai 201203, China.

GPR52 is an orphan G protein-coupled receptor (GPCR) that has been recently implicated as a potential drug target of Huntington's disease (HD), an incurable monogenic neurodegenerative disorder. In this research, we found that striatal knockdown of GPR52 reduces mHTT levels in adult HdhQ140 mice, validating GPR52 as an HD target. In addition, we discovered a highly potent and specific GPR52 antagonist Comp- with an IC value of 0. Read More

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January 2021