7,293 results match your criteria Chorea in Adults


Clinical manifestation of non-ketotic hyperglycemia chorea: A case report and literature review.

Medicine (Baltimore) 2020 May;99(22):e19801

Department of Neurology, Beijing Haidian Hospital, Beijing Haidian Section of Peking University Third Hospital, Beijing, P.R. China.

Introduction: Chorea is considered a special complication of diabetes mellitus. Here we report a case of chorea associated with non-ketotic hyperglycemia (NKH).

Patient Concerns: The patient was a 79-year-old Asian woman. Read More

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http://dx.doi.org/10.1097/MD.0000000000019801DOI Listing
May 2020
5.723 Impact Factor

[Huntington's disease with childhood and adolescent onset: course of disease, clinical presentation and diagnostic challenges].

Fortschr Neurol Psychiatr 2020 May 5. Epub 2020 May 5.

LWL Klinik für Psychiatrie, Ruhr-Universität Bochum.

Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a gene mutation in chromosome 4 that leads to an expansion of CAG - triplet repeats. It occurs mainly between the age of 30 and 50. Only less than 10 % of HD patients are younger than 20 years. Read More

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http://dx.doi.org/10.1055/a-1082-6605DOI Listing

Spinocerebellar ataxia type 48: last but not least.

Neurol Sci 2020 Apr 27. Epub 2020 Apr 27.

IRCCS Fondazione Stella Maris, Pisa, Italy.

Introduction: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. In the last 2 years, a new form of spinocerebellar ataxia (SCA48), associated with heterozygous mutations in the same gene, has been described in 12 kindreds with autosomal dominant inheritance.

Methods: We reviewed molecular and clinical findings of both SCAR16 and SCA48 described patients. Read More

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http://dx.doi.org/10.1007/s10072-020-04408-3DOI Listing

Methylphenidate-induced Exacerbation of Chorea in a Child Resolved with Switching to Atomoxetine.

Clin Psychopharmacol Neurosci 2020 May;18(2):327-330

Department of Child and Adolescent Psychiatry, Medical Faculty, University of Health Sciences, Istanbul, Turkey.

Choreiform movements have been reported with stimulant medications, especially in adults. There is only limited evidence on the management of such reactions in children with attention deficit hyperactivity disorder. Hereby, we present the exacerbation of chorea with long-acting methylphenidate use in a 6-year-old child with acute rheumatic fever which resolved with switching to atomoxetine. Read More

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http://dx.doi.org/10.9758/cpn.2020.18.2.327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242108PMC

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.

Medicine (Baltimore) 2020 Mar;99(12):e19650

Sir Run Run Shaw Hospital.

Rationale: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome.

Patient Concerns: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. Read More

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http://dx.doi.org/10.1097/MD.0000000000019650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220688PMC
March 2020
5.723 Impact Factor

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

BMC Med Genet 2020 03 4;21(1):47. Epub 2020 Mar 4.

Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Background: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance.

Case Presentation: Here we report two patients belonging to a consanguineous Moroccan family who present with movement disorder pathology. Read More

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http://dx.doi.org/10.1186/s12881-020-0983-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057524PMC

Pediatric APS: State of the Art.

Curr Rheumatol Rep 2020 Mar 3;22(3). Epub 2020 Mar 3.

Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital, University Medical Center, Faculty of Medicine, University of Ljubljana, Bohoriceva 20, 1525, Ljubljana, Slovenia.

Purpose Of Review: The purpose of this report is to review recent research findings on APS in children and neonates.

Recent Findings: European evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children with aPL, domains 4/5 specificity of 'innocent' anti-β2GPI antibodies in infants, and a higher risk for developmental delays and learning disabilities, hence, the need for neurodevelopmental monitoring in children born to mothers with APS. Read More

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http://dx.doi.org/10.1007/s11926-020-0887-9DOI Listing

Hung-up Knee Jerk in Huntington's Disease.

N Engl J Med 2020 Feb;382(7):e10

University of Tokushima, Tokushima, Japan

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http://dx.doi.org/10.1056/NEJMicm1910309DOI Listing
February 2020

Generalized chorea associated with subcortical leukoaraiosis of Binswanger type: a case report.

Neurodegener Dis Manag 2020 02 6;10(1):9-13. Epub 2020 Feb 6.

Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, 1000, Philippines.

Binswanger disease (BD) involves injuries to the brain small vessels, resulting to gradually progressive subcortical ischemia. This disorder manifests with dementia, gait abnormalities, upper motor signs and parkinsonism, and presents as extensive, confluent, bilateral cerebral white matter hyperintensities in the MRI. Cases of BD typically manifests with vascular risk factors, such as hypertension and multiple strokes. Read More

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http://dx.doi.org/10.2217/nmt-2019-0021DOI Listing
February 2020

Post-Pump Chorea and Progressive Supranuclear Palsy-Like Syndrome Following Major Cardiac Surgery.

Mov Disord Clin Pract 2020 Jan 11;7(1):78-82. Epub 2019 Dec 11.

Department of Neurology Asan Medical Center, University of Ulsan College of Medicine Seoul South Korea.

Background: Post-pump chorea and progressive-supranuclear palsy (PSP)-like syndrome after aortic surgery are 2 distinct movement disorders following major cardiac surgeries.

Cases: We herein report 3 patients with movement disorders that developed after major cardiac surgeries. Two patients developed post-pump chorea after pulmonary endarterectomy, and 1 further case developed PSP-like syndrome after aortic replacement surgery. Read More

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http://dx.doi.org/10.1002/mdc3.12867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962669PMC
January 2020

Reversible chorea secondary to uremia in an older adult.

Aging Med (Milton) 2019 Jun 6;2(2):118-120. Epub 2019 May 6.

Department of Geriatric Medicine All India Institute of Medical Sciences New Delhi India.

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http://dx.doi.org/10.1002/agm2.12062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880729PMC

The effects of dual-task cognitive interference on gait and turning in Huntington's disease.

PLoS One 2020 7;15(1):e0226827. Epub 2020 Jan 7.

Department of Cell and Molecular Medicine, Rush University Medical Center, Chicago, IL, United States of America.

Huntington's disease (HD) is characterized by motor, cognitive, and psychiatric dysfunction. HD progression causes loss of automaticity, such that previously automatic tasks require greater attentional resources. Dual-task (DT) paradigms and fast-paced gait may stress the locomotor system, revealing deficits not seen under single-task (ST). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0226827PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946131PMC

Teaching Video NeuroImages: Acute hemichorea-hemiballism reverted after IV thrombolysis.

Neurology 2020 01;94(1):e121-e122

From the Department of Neurology, Hospital das Clínicas, University of São Paulo Medical School, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000008706DOI Listing
January 2020
8.286 Impact Factor

Economic burden of Huntington's disease in Peru.

BMC Health Serv Res 2019 Dec 30;19(1):1017. Epub 2019 Dec 30.

Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash St, 15003, Lima, Peru.

Background: Huntington's disease (HD) is a devastating and fatal neurodegenerative disorder that leads to progressive disability, and over time to total dependence. The economic impact of HD on patients living in developing countries like Peru is still unknown. This study aims to estimate the economic burden by estimating direct and indirect costs of Huntington's disease in Peru, as well as the proportion of direct costs borne by patients and their families. Read More

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http://dx.doi.org/10.1186/s12913-019-4806-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937635PMC
December 2019

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Mol Genet Genomic Med 2020 Mar 26;8(3):e1108. Epub 2019 Dec 26.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.

Background: Alterations of vacuolar protein sorting-associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D-related movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia.

Methods: We applied whole-exome analysis for a patient with a complicated form of hereditary spastic paraplegia (HSP) and her unaffected parents. Read More

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http://dx.doi.org/10.1002/mgg3.1108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057107PMC

Epidemiology and health care utilization of patients suffering from Huntington's disease in Germany: real world evidence based on German claims data.

BMC Neurol 2019 Dec 10;19(1):318. Epub 2019 Dec 10.

IGES Institut GmbH, Friedrichstraße 180, 10117, Berlin, Germany.

Background: Huntington's disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, behavioural and motor symptoms. Evidence on epidemiology and management of HD is limited, especially for Germany. Read More

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http://dx.doi.org/10.1186/s12883-019-1556-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905058PMC
December 2019

Autoregressive modeling to assess stride time pattern stability in individuals with Huntington's disease.

BMC Neurol 2019 Dec 9;19(1):316. Epub 2019 Dec 9.

Biomedical Engineering, School of Engineering, University of Connecticut, 260 Glenbrook Road, Storrs, CT, 06269-3247, USA.

Background: Huntington's disease (HD) is a progressive, neurological disorder that results in both cognitive and physical impairments. These impairments affect an individual's gait and, as the disease progresses, it significantly alters one's stability. Previous research found that changes in stride time patterns can help delineate between healthy and pathological gait. Read More

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http://dx.doi.org/10.1186/s12883-019-1545-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902547PMC
December 2019

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

Eur J Med Genet 2020 Apr 26;63(4):103821. Epub 2019 Nov 26.

Dept. of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

POLG2 associated disorders belong to the group of mitochondrial DNA (mtDNA) diseases and present with a heterogeneous clinical spectrum, various age of onset, and disease severity. We report a 39-year old female presenting with childhood-onset and progressive neuroophthalmic manifestation with optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea associated with mtDNA depletion. Whole-exome sequencing identified an ultra-rare homozygous missense mutation located at Chr17: 062474101-C > A (p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103821DOI Listing

A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.

BMC Neurol 2019 Nov 27;19(1):301. Epub 2019 Nov 27.

Department of Neurology, Fukushima Medical University, Fukushima, Japan.

Background: McLeod syndrome is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, cognitive impairment, psychiatric disturbances, seizures, and sensorimotor axonal polyneuropathy. However, no studies have investigated the functioning of central sensorimotor tracts in patients with McLeod syndrome.

Case Presentation: A 66-year-old man had experienced slowly progressive chorea and gait disturbance due to lower limb muscle weakness since his early fifties. Read More

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http://dx.doi.org/10.1186/s12883-019-1526-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882147PMC
November 2019

Spinocerebellar ataxia type 2 presenting with involuntary movement: a diagnostic dilemma.

J Int Med Res 2019 Dec 27;47(12):6390-6396. Epub 2019 Nov 27.

Department of Neurology, Jinhua Hospital, Jinhua, China.

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http://dx.doi.org/10.1177/0300060519889457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045683PMC
December 2019

[Clinical findings of a patient with hemiballism after superficial temporal artery-middle cerebral artery anastomosis for idiopathic middle cerebral artery stenosis].

Rinsho Shinkeigaku 2019 Dec 23;59(12):829-833. Epub 2019 Nov 23.

Department of Neurology, Gifu University Graduate School of Medicine.

A 32-year-old woman experienced several episodes of transient numbness on the left side of her face and body. MR angiography revealed severe stenosis in the right middle cerebral artery (MCA). Abnormal collateral vessel networks were not observed, and idiopathic MCA stenosis was diagnosed. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001350DOI Listing
December 2019

A case of dyskinesia after levetiracetam administration.

BMC Neurol 2019 Nov 18;19(1):292. Epub 2019 Nov 18.

Department of Neurology, Epilepsy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, Korea.

Background: Antiepileptic drug (AED) induced dyskinesia is an unusual manifestation in the medical field. In the previous case reports describing first generation-AED related involuntary movements, the authors suggested that a plausible cause is pharmacokinetic interactions between two or more AEDs. To date, development of dyskinesia after levetiracetam (LEV) has not been reported. Read More

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http://dx.doi.org/10.1186/s12883-019-1519-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862831PMC
November 2019

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Front Genet 2019 29;10:1026. Epub 2019 Oct 29.

Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnostic challenge. First, from a purely phenomenological point of view, the correct clinical classification of signs and symptoms may be difficult and require expert evaluation. Read More

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http://dx.doi.org/10.3389/fgene.2019.01026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828958PMC
October 2019

Adult-Onset Isolated Hemichorea Revealing Iatrogenic Hypoparathyroidism and Bilateral Basal Ganglia Calcification.

Ann Indian Acad Neurol 2019 Oct-Dec;22(4):496-499. Epub 2019 Oct 25.

Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

Isolated hemichorea (HC) in adults has a relatively restricted differential diagnosis including stroke of contralateral basal ganglia nuclei, nonketotic hyperglycemia, and basal ganglia toxoplasmosis in HIV infection. Hypoparathyroidism-related basal ganglia calcification can potentially cause neurological problems, including movement disorders, that are usually bilateral in keeping with bilateral symmetric lesions. We report a patient with video-documented isolated, adult-onset HC due to iatrogenic hypoparathyroidism and bilateral basal ganglia calcification. Read More

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http://dx.doi.org/10.4103/aian.AIAN_123_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839308PMC
October 2019

Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease.

Ann Neurol 2020 02 27;87(2):246-255. Epub 2019 Nov 27.

Neurogenetics Clinic, Danish Dementia Research Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Objective: Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. No disease-modifying therapy exists for the treatment of patients with HD. The purpose of this study was therefore to investigate early disease mechanisms that potentially could be used as a target therapeutically. Read More

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http://dx.doi.org/10.1002/ana.25647DOI Listing
February 2020

Severe Contralateral Striatal Hypometabolism in a Case of Diabetic Nonketotic Hyperglycemic Hemichorea on 18F-FDG PET/CT Brain.

Clin Nucl Med 2020 Feb;45(2):e117-e119

From the Departments of Nuclear Medicine.

Chorea induced by diabetic nonketotic hyperglycemia is a rare and poorly understood entity with a favorable prognosis after correction of the hyperglycemia. We present a case of elderly diabetic woman with poorly controlled blood glucose levels, presenting with choreiform movements limited to the right side. F-FDG PET/CT showed marked hypometabolism in the basal ganglia contralateral to the side with hemichorea. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002844DOI Listing
February 2020
3.931 Impact Factor

Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease.

Dis Model Mech 2019 12 12;13(2). Epub 2019 Dec 12.

Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, 277 21 Libechov, Czech Republic

Huntington's disease (HD) is an inherited devastating neurodegenerative disease with no known cure to date. Several therapeutic treatments for HD are in development, but their safety, tolerability and efficacy need to be tested before translation to bedside. The monogenetic nature of this disorder has enabled the generation of transgenic animal models carrying a mutant huntingtin (mHTT) gene causing HD. Read More

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http://dx.doi.org/10.1242/dmm.041293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918771PMC
December 2019

Chorea-like symptoms and high blood concentration of ceftriaxone in a patient undergoing hemodialysis: A case report.

J Infect Chemother 2020 Mar 31;26(3):285-288. Epub 2019 Oct 31.

Department of Pharmacy, Kameda Medical Center, Chiba, Japan.

Ceftriaxone (CTRX) is a third-generation cephalosporin commonly used to treat infections such as community-acquired pneumonia and urinary tract infections caused by mainly Gram-negative bacteria and some Gram-positive bacteria. Here, we report a case of a patient on hemodialysis who had chorea-like symptoms with high blood concentration of CTRX. A 74-year-old Japanese woman receiving hemodialysis was admitted with obstructive cholangitis and was started on CTRX therapy at a dose of 2 g every 24 hours. Read More

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http://dx.doi.org/10.1016/j.jiac.2019.10.005DOI Listing
March 2020
1 Read

Motor speech patterns in Huntington disease.

Neurology 2019 11 29;93(22):e2042-e2052. Epub 2019 Oct 29.

From Hearing and Speech Sciences (S.K.D., A.M., M.d.R.), Biostatistics (Y.-C.L.), and Neurology (J.S., K.M., D.O.C.), Vanderbilt University Medical Center, Nashville, TN.

Objective: Dysarthric speech of persons with Huntington disease (HD) is typically described as hyperkinetic; however, studies suggest that dysarthria can vary and resemble patterns in other neurologic conditions. To test the hypothesis that distinct motor speech subgroups can be identified within a larger cohort of patients with HD, we performed a cluster analysis on speech perceptual characteristics of patient audio recordings.

Methods: Audio recordings of 48 patients with mild to moderate dysarthria due to HD were presented to 6 trained raters. Read More

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http://dx.doi.org/10.1212/WNL.0000000000008541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913327PMC
November 2019

Olanzapine in the management of psychosis in Huntington’s disease: a case report.

Actas Esp Psiquiatr 2019 Sep 1;47(5):202-8. Epub 2019 Sep 1.

Universidad Nacional de Trujillo, Facultad de Medicina. La Libertad, Perú Hospital Regional Docente de Trujillo. La Libertad, Perú.

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September 2019

Dietary Polyphenols: A Multifactorial Strategy to Target Alzheimer's Disease.

Int J Mol Sci 2019 Oct 14;20(20). Epub 2019 Oct 14.

School of Science, RMIT University, Bundoora, Victoria 3083, Australia.

Ageing is an inevitable fundamental process for people and is their greatest risk factor for neurodegenerative disease. The ageing processes bring changes in cells that can drive the organisms to experience loss of nutrient sensing, disrupted cellular functions, increased oxidative stress, loss of cellular homeostasis, genomic instability, accumulation of misfolded protein, impaired cellular defenses and telomere shortening. Perturbation of these vital cellular processes in neuronal cells can lead to life threatening neurological disorders like Alzheimer's Disease, Parkinson's Disease, Huntington's Disease, Lewy body dementia, etc. Read More

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http://dx.doi.org/10.3390/ijms20205090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834216PMC
October 2019
1 Read
2.862 Impact Factor

How different aspects of motor dysfunction influence day-to-day function in huntington's disease.

Mov Disord 2019 12 14;34(12):1910-1914. Epub 2019 Oct 14.

Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.

Purpose: This study examined the relationships between different aspects of motor dysfunction (chorea, dystonia, rigidity, incoordination, oculomotor dysfunction, dysarthria, and gait difficulties) and functional status in persons with Huntington's disease.

Methods: A total of 527 persons with Huntington's disease completed the Unified Huntington's Disease Rating Scale motor, total functional capacity, and functional assessments.

Results: Confirmatory factor analysis indicated that a 4-factor model provided a better model fit than the existing 5-factor model. Read More

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http://dx.doi.org/10.1002/mds.27866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025393PMC
December 2019
1 Read

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.

EBioMedicine 2019 Oct 10;48:568-580. Epub 2019 Oct 10.

Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK. Electronic address:

Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CAA glutamine-encoding repeat, and DNA repair genes.

Methods: The sequence of the glutamine-encoding repeat and the proportion of somatic CAG expansions in blood DNA from participants inheriting 40 to 50 CAG repeats within the TRACK-HD and Enroll-HD cohorts were determined using high-throughput ultra-deep-sequencing. Read More

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http://dx.doi.org/10.1016/j.ebiom.2019.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838430PMC
October 2019
1 Read

Expanded polyglutamine impairs normal nuclear distribution of fused in sarcoma and poly (rC)-binding protein 1 in Huntington's disease.

Neuropathology 2019 Oct 9;39(5):358-367. Epub 2019 Oct 9.

Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Huntington's disease (HD) is an inherited neurodegenerative disease caused by a polyglutamine repeat expansion in the huntingtin protein. Immunohistochemical studies using the 1C2 antibody for polyglutamine expansion have detected characteristic intranuclear inclusions (INIs) in affected neurons in HD. Further, in vitro and mouse models of HD have shown that the INIs recruit several proteins relating to RNA splicing and translation. Read More

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http://dx.doi.org/10.1111/neup.12600DOI Listing
October 2019

Carditis in Acute Rheumatic Fever in a High-Income and Moderate-Risk Country.

J Pediatr 2019 12 3;215:187-191. Epub 2019 Oct 3.

Department of Pediatrics, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.

Objective: To describe clinical presentation, electrocardiographic, and echocardiographic characteristics of carditis at the time of diagnosis of acute rheumatic fever (ARF) over a 13-year period.

Study Design: A single-center retrospective chart analysis was conducted involving all consecutive patients diagnosed with ARF between 2003 and 2015. Patient age, sex, clinical characteristics, recent medical history for group A streptococcal pharyngotonsillitis and antibiotic treatment, and laboratory, echocardiographic, and electrocardiographic findings were recorded. Read More

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http://dx.doi.org/10.1016/j.jpeds.2019.07.072DOI Listing
December 2019
2 Reads

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Eur J Neurol 2020 Mar 1;27(3):498-505. Epub 2019 Nov 1.

Area of Neuroscience, Institute of Neurology, Fondazione Policlinico Universitario A.Gemelli IRCCS, Rome, Italy.

Background And Purpose: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48.

Methods: Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Read More

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http://dx.doi.org/10.1111/ene.14094DOI Listing
March 2020
1 Read

Targeting Hsp70 facilitated protein quality control for treatment of polyglutamine diseases.

Cell Mol Life Sci 2020 Mar 24;77(6):977-996. Epub 2019 Sep 24.

Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI, USA.

The polyglutamine (polyQ) diseases are a group of nine fatal, adult-onset neurodegenerative disorders characterized by the misfolding and aggregation of mutant proteins containing toxic expansions of CAG/polyQ tracts. The heat shock protein 90 and 70 (Hsp90/Hsp70) chaperone machinery is a key component of cellular protein quality control, playing a role in the regulation of folding, aggregation, and degradation of polyQ proteins. The ability of Hsp70 to facilitate disaggregation and degradation of misfolded proteins makes it an attractive therapeutic target in polyQ diseases. Read More

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http://dx.doi.org/10.1007/s00018-019-03302-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137528PMC
March 2020
7 Reads

Multimodal characterization of the visual network in Huntington's disease gene carriers.

Clin Neurophysiol 2019 11 28;130(11):2053-2059. Epub 2019 Aug 28.

Department of Neurology, Ulm University Hospital, Ulm, Germany. Electronic address:

Objective: A sensorimotor network structural phenotype predicted motor task performance in a previous study in Huntington's disease (HD) gene carriers. We investigated in the visual network whether structure - function - behaviour relationship patterns, and the effects of the HD mutation, extended beyond the sensorimotor network.

Methods: We used multimodal visual network MRI structural measures (cortical thickness and white matter connectivity), plus visual evoked potentials and task performance (Map Search; Symbol Digit Modalities Test) in healthy controls and HD gene carriers. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.08.018DOI Listing
November 2019
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Theory of mind impairment in Huntington's disease patients and their relatives.

Arq Neuropsiquiatr 2019 09 5;77(8):574-578. Epub 2019 Sep 5.

Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Clinical Research Laboratory, Mexico City, Tlalpan, Mexico.

Huntington disease (HD) is an autosomal dominant genetic disorder characterized by movement disorders, cognitive impairment, and psychiatric symptoms. Relatives of HD patients experience a great burden as the latter suffer from altered social conduct and deterioration of interpersonal relationships. Theory of mind (ToM) is the ability to attribute mental states (to oneself and others). Read More

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http://dx.doi.org/10.1590/0004-282X20190092DOI Listing
September 2019
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Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.

Tremor Other Hyperkinet Mov (N Y) 2019 21;9. Epub 2019 Aug 21.

Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, IN.

Background: Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations. Read More

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http://dx.doi.org/10.7916/tohm.v0.683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707210PMC
March 2020
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Widespread Increased Diffusivity Reveals Early Cortical Degeneration in Huntington Disease.

AJNR Am J Neuroradiol 2019 09;40(9):1464-1468

From the Movement Disorders Unit (F.S., S.M.-H., J.P.-P., A.H.-B., J.M.-L., J.K.), Neurology Department

Background And Purpose: Huntington disease is a devastating genetic neurodegenerative disorder for which no effective treatment is yet available. Although progressive striatal atrophy is its pathologic hallmark, concomitant cortical deterioration is assumed to occur, but it is poorly characterized. Our objective was to study the loss of cortical integrity and its association with clinical indicators throughout the course of the disease. Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A6168
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http://dx.doi.org/10.3174/ajnr.A6168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048456PMC
September 2019
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Significance of N-isopropyl-[I] p-iodoamphetamine single-photon emission computed tomography in detection of responsible hypoperfusion in hemichorea.

J Clin Neurosci 2019 Dec 22;70:260-263. Epub 2019 Aug 22.

Department of Neurology, Haga Red Cross Hospital, Japan.

Hemichorea is relatively an uncommon clinical presentation while its known etiology are vascular, metabolic, neoplastic, infectious, autoimmune, and inherited disorders. In the acquired case of hemichorea, the most common cause is the cerebrovascular insult, which is often diagnosed by the magnetic resonance (MR) imaging. An 84-year-old woman reported a one-week history of involuntary movements in the left side of her face and left limbs. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.07.072DOI Listing
December 2019

Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms.

Mol Genet Genomic Med 2019 10 22;7(10):e00881. Epub 2019 Aug 22.

Service de neurogénétique et médecine prédictive, GH Nord-Hôpital de la Croix Rousse, Hospices civils de Lyon, Lyon, France.

Background: Huntington disease (HD) is a devastating neurodegenerative autosomal dominant genetic condition. Predictive testing (PT) is available through a defined protocol for at-risk individuals. We analyzed the over-24-years evolution of practices regarding PT for HD in a single center. Read More

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http://dx.doi.org/10.1002/mgg3.881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785454PMC
October 2019

Letters.

Nursing 2019 09;49(9)

PALLIATIVE CARE DIRECTOR, MEDICAL UNIVERSITY OF SOUTH CAROLINA CHARLESTON, S.C. CHICAGO, ILL. LINCOLNTON, N.C.

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http://dx.doi.org/10.1097/01.NURSE.0000577724.79923.79DOI Listing
September 2019
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Discrete changes in the frequency and functions of autobiographical reminiscence in Huntington's disease.

Memory 2019 11 19;27(10):1345-1351. Epub 2019 Aug 19.

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

Autobiographical memory is widely posited to serve self, social and directive functions. Recent evidence suggests marked autobiographical memory impairments in Huntington's disease (HD), however, no study to date has determined how the perceived functions of autobiographical reminiscence may be altered in HD. The current study aimed to assess the self-reported frequency and function of autobiographical reminiscence in HD. Read More

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http://dx.doi.org/10.1080/09658211.2019.1654519DOI Listing
November 2019

Uncommon Movement Disorders in Chronic Hepatic Disease with Response to Rifaximin.

Tremor Other Hyperkinet Mov (N Y) 2019 2;9. Epub 2019 Aug 2.

Neurology Department, Centro Hospitalar do Porto, Porto, PT.

Background: Chronic hepatic disease can present with extrapyramidal symptoms. We describe two cases that presented with highly unusual movement disorders: ballism and gait freezing.

Case Report: Patient 1 is a 42-year-old man with previous episodes of hepatic encephalopathy (HE) who presented with upper limb dystonia and generalized chorea that progressed to ballism. Read More

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http://dx.doi.org/10.7916/tohm.v0.649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691909PMC
January 2020
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Health state utility values (QALY weights) for Huntington's disease: an analysis of data from the European Huntington's Disease Network (EHDN).

Eur J Health Econ 2019 Dec 13;20(9):1335-1347. Epub 2019 Aug 13.

Neurology, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, Devon, EX2 5DW, UK.

Background: Huntington's Disease (HD) is a hereditary neurodegenerative disorder which affects individuals' ability to walk, talk, think, and reason. Onset is usually in the forties, there are no therapies currently available that alter disease course, and life expectancy is 10-20 years from diagnosis. The gene causing HD is fully penetrant, with a 50% probability of passing the disease to offspring. Read More

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http://dx.doi.org/10.1007/s10198-019-01092-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856291PMC
December 2019

Worsening of movement disorder following treatment with electroconvulsive therapy in a patient with Huntington's disease.

BMJ Case Rep 2019 Aug 10;12(8). Epub 2019 Aug 10.

Department of Psychiatry, Queensland Health, Robina, Queensland, Australia.

This paper describes a patient who presented with treatment-resistant depression with comorbid anxiety symptoms in the context of Huntington's disease (HD) and developed worsening movement disorder symptoms after commencing electroconvulsive therapy (ECT) for depression. The aim of this case report is to provide medical practitioners with a greater awareness of the possibility of worsening movement disorders when using ECT for depression in a patient with HD. Read More

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http://dx.doi.org/10.1136/bcr-2019-230389DOI Listing
August 2019
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