6,914 results match your criteria Chorea in Adults


Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.

Cogn Behav Neurol 2018 Dec;31(4):214-219

2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.

We describe the cognitive-behavioral functioning of two adult patients with a mild form of alternating hemiplegia of childhood (AHC). AHC is a rare, chronic neurodevelopmental syndrome manifesting in infancy or early childhood, with recurrent hemiplegic or hemidystonic attacks, various nonepileptic paroxysmal events, and cognitive-behavioral impairments, including mental delay of varying degrees. We conducted neurologic and neuroimaging examinations, as well as a neuropsychological assessment, of two men (22 and 30 years old) with mutations in the ATP1A3 gene (p. Read More

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http://dx.doi.org/10.1097/WNN.0000000000000178DOI Listing
December 2018

Chorea following extracorporeal circulation in adults: A case report and brief literature review.

Neurologia 2018 Nov 15. Epub 2018 Nov 15.

Servicio de Neurología y Unidad de Trastornos del Movimiento, Hospital Universitario La Paz, Madrid, España.

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http://dx.doi.org/10.1016/j.nrl.2018.08.004DOI Listing
November 2018
2 Reads

Hemichorea associated with cavernous angioma and a small errhysis: A case report and literature review.

Medicine (Baltimore) 2018 Oct;97(43):e12889

Departments of Neurosurgery.

Rationale: Chorea is a movement disorder characterized by randomly appearing involuntary movements of the face, neck, limbs, or trunk. Hemichorea is unilateral, involving one side of the body. Hemichorea is commonly caused by non-ketotic hyperglycemia and/or cerebrovascular injury to the contralateral basal ganglia. Read More

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http://dx.doi.org/10.1097/MD.0000000000012889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221695PMC
October 2018
1 Read

Transient Generalized Chorea in Influenza A Encephalopathy.

Tremor Other Hyperkinet Mov (N Y) 2018 9;8:591. Epub 2018 Oct 9.

Department of Neurology, University of Lübeck, Lübeck, DE.

Background: Influenza A infections are a rare cause of movement disorders. Previously described patients have suffered from acute-onset myoclonus and/or dystonia or post-viral parkinsonism.

Case Report: We present the case of a 74-year-old female patient with transient generalized chorea due to influenza A-mediated encephalopathy. Read More

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http://www.tremorjournal.org/index.php/tremor/article/view/5
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http://dx.doi.org/10.7916/D8F495TPDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214816PMC
December 2018
5 Reads

Phenytoin induced chorea: a rare adverse effect of the drug.

Curr Drug Saf 2018 Oct 31. Epub 2018 Oct 31.

B. J. Medical College, Ahmedabad. India.

Background: Dyskinetic neurological diseases are common presentations of adverse reaction to many therapeutic agents. Phenytoin, a widely used age old antiepileptic drug has been reported to cause dyskinesias, a rare adverse drug reaction (ADR) in adults with toxic therapeutic serum level. When the drug is used in combination with other drugs which augments free drug level of phenytoin or in patients of organic brain lesion, this side effect is very occasionally reported with even normal therapeutic drug level. Read More

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http://dx.doi.org/10.2174/1574886313666181031161215DOI Listing
October 2018
1 Read

Athetoid Movements as Initial Manifestation of Primary Sjögren Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2018 16;8:573. Epub 2018 Aug 16.

Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo León, Mexico.

Background: Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by exocrine gland and extraglandular symptoms. We present a case report of pSS with an initial presentation of athetoid movements.

Case Report: A 74-year-old female presented with a 2-month history of slow undulating movements in her trunk and thighs that eventually spread to her neck and lower extremities. Read More

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http://dx.doi.org/10.7916/D8HQ5GHBDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123837PMC
November 2018
5 Reads

Brain-Derived Neurotrophic Factor (BDNF) and Serotonin Transporter (SERT) in Platelets of Patients with Mild Huntington's Disease: Relationships with Social Cognition Symptoms.

Arch Ital Biol 2018 07;156(1-2):27-39

Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy - Email:

Deficits in social-cognition processing have been identified during early stages of Huntington Disease (HD), attracting interest on their relevance as possible predictors of  neurodegenerative progression. Since the neurotrophin Brain-Derived Neurotrophic Factor (BDNF) and the serotonin (5-HT) transporter (SERT) are known to modulate human adaptive behavior, we appraised these two proteins in mild-HD using blood platelets, with the aim at finding relationships with cognitive/psychosocial skills. Thirteen gene positive and symptomatic patients (9M/4W, HD-stage II, age> 40y) together 11 gender/age matched controls without a concurrent diagnosis of psychiatric disorders, underwent a blood test to determine BDNF storage and membrane-bound SERT in platelets by an ELISA immune-enzyme dosage and [3H]-paroxetine ([3H]-PAR) binding, respectively. Read More

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http://dx.doi.org/10.12871/00039829201813DOI Listing
July 2018
6 Reads

Hyperglycemic Nonketotic Signal Changes of the Striatum: An Unusual Complication in the Setting of Neurosurgical Procedures.

World Neurosurg 2018 Oct 11;118:177-180. Epub 2018 Jul 11.

Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, USA. Electronic address:

Background: Hyperglycemic nonketotic chorea is an uncommon complication of poorly controlled diabetes mellitus. Patients typically develop abnormal signal changes in the striatum on imaging studies. Whereas the condition is well reported in the medical literature, reports on this topic in the surgical literature are lacking. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.07.008DOI Listing
October 2018

[A case of hemichorea associated with lung adenocarcinoma].

Rinsho Shinkeigaku 2018 Jul 30;58(7):430-434. Epub 2018 Jun 30.

Department of Neurology and Neurological Science, Tokyo Medical and Dental University.

An 81-year-old woman admitted to our hospital due to involuntary movement on her right extremities. Laboratory tests, including autoantibodies, were unremarkable and only age related changes were observed on brain MRI. Chest CT revealed lung adenocarcinoma. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001128DOI Listing
July 2018
1 Read

A Female with Strange Movements.

J Emerg Med 2018 09 28;55(3):e81-e82. Epub 2018 Jun 28.

Department of Emergency Medicine, Staten Island University Hospital, Northwell Health, Staten Island, New York.

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http://dx.doi.org/10.1016/j.jemermed.2018.05.024DOI Listing
September 2018
9 Reads

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI-Application in Premanifest Huntington's Disease.

J Vis Exp 2018 06 9(136). Epub 2018 Jun 9.

Center for Imaging Science, Johns Hopkins University; Institute for Computational Medicine, Johns Hopkins University; Department of Biomedical Engineering, Johns Hopkins University.

Recent advances in MRI offer a variety of useful markers to identify neurodegenerative diseases. In Huntington's disease (HD), regional brain atrophy begins many years prior to the motor onset (during the "premanifest" period), but the spatiotemporal pattern of regional atrophy across the brain has not been fully characterized. Here we demonstrate an online cloud-computing platform, "MRICloud", which provides atlas-based whole-brain segmentation of T1-weighted images at multiple granularity levels, and thereby, enables us to access the regional features of brain anatomy. Read More

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http://dx.doi.org/10.3791/57256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101648PMC
June 2018
7 Reads

Reliability of the bicaudate parameter in the revealing of the enlarged lateral Ventricles in schizophrenia patients.

Psychiatr Danub 2018 Jun;30(2):150-156

Clinics for Psychiatry "Laza Lazarević", Belgrade, Serbia.

Introduction: In schizophrenia patients the lateral ventricle enlargement has mostly been reported in relationship with smaller cortical and/or subcortical brain volumes; and it has been observed that ventricular system growth may be a consequence of the smaller caudate nucleus volume. Bicaudate parameters have been used in the Alzheimer dementia and Huntington's chorea diagnosing in order to evaluate brain changes and the enlargement of the lateral ventricles.

Subjects And Methods: This study has been carried out on 140 patients out of which 70 patients (30 men and 40 women) who met the ICD 10 criteria for schizophrenia and 70 healthy controls (30 men and 40 women) matched on sex and age with the studied group. Read More

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http://dx.doi.org/10.24869/psyd.2018.150DOI Listing
June 2018
21 Reads

Bilateral chorea/ballismus: detection and management of a rare complication of non-ketotic hyperglycaemia.

BMJ Case Rep 2018 Jun 19;2018. Epub 2018 Jun 19.

Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, Nebraska, USA.

Non-ketotic hyperglycaemia (NKH) is the most common metabolic cause of hemichorea-hemiballismus (HC-HB) and an often-reversible condition. A 68-year-old man presented to the emergency department with a severe hyperglycaemic episode and altered mental status. He was treated appropriately and discharged home after his blood glucose levels were normal with an improvement of mental status. Read More

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http://dx.doi.org/10.1136/bcr-2018-224856DOI Listing
June 2018
2 Reads

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Neurol Genet 2018 Jun 8;4(3):e240. Epub 2018 Jun 8.

Department of Neurology (N.M.S., M.D.G.), University of California San Francisco, CA; Laboratory of Cancer Biology and Genetics (J.J.D., K.H.K.), Center for Cancer Research, National Cancer Institute, National Institutes of Health; NIH Undiagnosed Diseases Program (C.G., R.G., M.C.V.M., W.A.G., C.T.), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Department of Molecular Medicine (M.J.Y., E.A.W., L.J.N.), Center on Aging, The Scripps Research Institute, Jupiter, FL.

Objective: To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting.

Methods: We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F.

Results: Both patients presented with adult-onset progressive neurologic deterioration involving chorea, ataxia, hearing loss, cognitive deficits, profound brain atrophy, and a history of skin photosensitivity, skin freckling, and/or skin neoplasms. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994703PMC
June 2018
15 Reads

Drug treatment.

Handb Clin Neurol 2018 ;155:371-377

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland.

There are no approved disease-modifying therapies for any of the inherited cerebellar ataxias. Drug treatment in childhood ataxia is still very limited. Effective treatments are available for only a few rare metabolic hereditary disorders. Read More

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00024-XDOI Listing
October 2018
1 Read

Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients.

Folia Biol (Praha) 2018 ;64(1):31-34

Laboratory for the Study of Mitochondrial Disorders, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Czech Republic.

Alterations in mitochondrial parameters are an important hallmark of Huntington's disease (HD). The ubiquitous expression of mutant huntingtin raises the prospect that mitochondrial disturbances can also be detected and monitored through buccal epithelial cells. In a group of 34 patients with Huntington's disease and a group of 22 age-related healthy volunteers, respiratory complex I and IV protein quantities in buccal epithelial cells were measured using the dipstick immunocapture assay. Read More

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October 2018
1 Read

Long-Term Outcome of Gamma Knife Radiosurgery for Symptomatic Brainstem Cavernous Malformation.

World Neurosurg 2018 Aug 2;116:e1054-e1059. Epub 2018 Jun 2.

Department of Neurosurgery, Seoul National University Hospital, Seoul, Republic of Korea.

Objective: We sought to analyze the long-term outcome of Gamma Knife radiosurgery (GKS) for symptomatic brainstem cavernous malformation (s-BSCM).

Methods: Forty-five patients (14 males, 31 females) were treated with GKS for s-BSCM from January 1998 to December 2011. All patients were followed up for >5 years, and their clinical data were analyzed retrospectively. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.05.164DOI Listing
August 2018
2 Reads

[Chorea due to chronic subdural hematoma].

Rinsho Shinkeigaku 2018 Jun 1;58(6):399-402. Epub 2018 Jun 1.

Department of Neurology, Tokyo Metropolitan Geriatric Hospital and Institution of Gerontology.

An 86-year-old woman presented with generalized chorea in the face and extremities, which gradually progressed for two weeks. Cranial CT revealed a chronic subdural hematoma (CSDH) that covered the left parietal lobe. Discontinuation of amantadine did not improve the chorea. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001102DOI Listing
June 2018
16 Reads

Comparative transcriptomics of choroid plexus in Alzheimer's disease, frontotemporal dementia and Huntington's disease: implications for CSF homeostasis.

Fluids Barriers CNS 2018 May 31;15(1):18. Epub 2018 May 31.

Departments of Neurosurgery and Pathology (Neuropathology Division), Rhode Island Hospital, The Warren Alpert Medical School, Brown University, Providence, RI, USA.

Background: In Alzheimer's disease, there are striking changes in CSF composition that relate to altered choroid plexus (CP) function. Studying CP tissue gene expression at the blood-cerebrospinal fluid barrier could provide further insight into the epithelial and stromal responses to neurodegenerative disease states.

Methods: Transcriptome-wide Affymetrix microarrays were used to determine disease-related changes in gene expression in human CP. Read More

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http://dx.doi.org/10.1186/s12987-018-0102-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977762PMC
May 2018
4 Reads

When Huntington's disease comes early.

Authors:
Elie Dolgin

Nature 2018 05;557(7707):S44-S45

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http://dx.doi.org/10.1038/d41586-018-05178-xDOI Listing
May 2018
2 Reads

Living under the shadow of Huntington's disease.

Authors:
Simon Roach

Nature 2018 05;557(7707):S38

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http://dx.doi.org/10.1038/d41586-018-05175-0DOI Listing
May 2018
3 Reads

Huntington's Disease Gene Expansion Carriers Are Aware of Their Degree of Apathy.

J Neuropsychiatry Clin Neurosci 2018 30;30(3):183-187. Epub 2018 May 30.

From the Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands (VB, RACR); the Huntington Center Topaz Overduin, Katwijk, the Netherlands (VB); the Department of Psychiatry, Leiden University Medical Center, Leiden, the Netherlands (EvD); and the Mental Health Care Centre Delfland, Delft, the Netherlands (EvD).

Huntington's disease is characterized by motor and behavioral symptoms as well as cognitive decline. Apathy is a common behavioral symptom, and its severity is related to disease progression. It has been suggested that Huntington's disease gene expansion carriers (HDGECs) are unaware of the signs and symptoms of the disease, which may account for their own level of awareness of their apathy. Read More

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http://dx.doi.org/10.1176/appi.neuropsych.18020031DOI Listing
November 2018
17 Reads

Does arterial hypertension influence the onset of Huntington's disease?

PLoS One 2018 23;13(5):e0197975. Epub 2018 May 23.

Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain.

Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197975PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965871PMC
November 2018
4 Reads

Sudden hemichorea and frontal lobe syndrome: a rare presentation of unbalanced polycythaemia vera.

BMJ Case Rep 2018 May 14;2018. Epub 2018 May 14.

Department of Neurology, Centro Medico de Asturias, Oviedo, Asturias, Spain.

Polycythaemia vera (PV) is an haematological neoplasm that frequently presents neurological symptoms. However, chorea is a rare complication of this disease, occurring in less than 5% of the patients. Cognitive impairment related to PV unbalanced is also a rare complication, and it can improve with proper treatment. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22386
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http://dx.doi.org/10.1136/bcr-2017-223867DOI Listing
May 2018
10 Reads

Trihexyphenidyl for dystonia in cerebral palsy.

Cochrane Database Syst Rev 2018 May 15;5:CD012430. Epub 2018 May 15.

Department of Neurodevelopment and Disability, The Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, Australia, 3052.

Background: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. Read More

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http://dx.doi.org/10.1002/14651858.CD012430.pub2DOI Listing
May 2018
10 Reads

Pallidal deep brain stimulation in juvenile Huntington's disease: local field potential oscillations and clinical data.

J Neurol 2018 Jul 3;265(7):1573-1579. Epub 2018 May 3.

Department of Neurology, Centre for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany.

Background: Recently, therapeutic attempts to control motor choreatic hyperkinesia of Huntington's disease (HD) by means of pallidal deep brain stimulation (Gp-DBS) were successful. With respect to the clinical effects of Gp-DBS in juvenile hypokinetic-rigid HD (jHD; Westphal variant), only one single-case has been reported up to date. Oscillatory patterns of the Gp in jHD are not known. Read More

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http://dx.doi.org/10.1007/s00415-018-8880-1DOI Listing
July 2018
4 Reads

Retinal dysfunction in a presymptomatic patient with Huntington's disease.

Doc Ophthalmol 2018 06 24;136(3):213-221. Epub 2018 Apr 24.

Department of Ophthalmology, Nationwide Children's Hospital, 555 South 18th Street, Suite D, Columbus, OH, 43205, USA.

Purpose: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD. Read More

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http://dx.doi.org/10.1007/s10633-018-9632-3DOI Listing
June 2018
3 Reads

Agreement between clinician-rated versus patient-reported outcomes in Huntington disease.

J Neurol 2018 Jun 23;265(6):1443-1453. Epub 2018 Apr 23.

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

Background: Clinician-rated measures of functioning are often used as primary endpoints in clinical trials and other behavioral research in Huntington disease. As study costs for clinician-rated assessments are not always feasible, there is a question of whether patient self-report of commonly used clinician-rated measures may serve as acceptable alternatives in low risk behavioral trials.

Aim: The purpose of this paper was to determine the level of agreement between self-report and clinician-ratings of commonly used functional assessment measures in Huntington disease. Read More

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http://dx.doi.org/10.1007/s00415-018-8852-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992091PMC
June 2018
3 Reads

Targeted biochemical profiling of brain from Huntington's disease patients reveals novel metabolic pathways of interest.

Biochim Biophys Acta Mol Basis Dis 2018 Jul 21;1864(7):2430-2437. Epub 2018 Apr 21.

Advanced Asset Technology Centre, Institute for Global Food Security, Queen's University Belfast, Belfast, UK.

Huntington's disease (HD) is a devastating, progressive neurodegenerative disease with a distinct phenotype characterized by chorea and dystonia, incoordination, cognitive decline and behavioral difficulties. The precise mechanisms of HD progression are poorly understood; however, it is known that there is an expansion of the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntingtin gene. Herein DI/LC-MS/MS was used to accurately identify and quantify 185 metabolites in post mortem frontal lobe and striatum from HD patients and healthy control cases. Read More

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http://dx.doi.org/10.1016/j.bbadis.2018.04.012DOI Listing
July 2018
6 Reads

Rare case of chorea-hyperglycaemia-basal ganglia (C-H-BG) syndrome.

BMJ Case Rep 2018 Apr 17;2018. Epub 2018 Apr 17.

Department of Diabetes and Endocrinology, University Hospital Llandough, Llandough, UK.

An 83-year-old woman presented with acute-onset haemichorea and haemiballism particularly affecting the left side of the body. She was known to have type 2 diabetes, which was poorly controlled with sitagliptin. She was hyperglycaemic but not ketotic or acidotic. Read More

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http://dx.doi.org/10.1136/bcr-2017-223920DOI Listing
April 2018
2 Reads

Objective assessment of gait and posture in premanifest and manifest Huntington disease - A multi-center study.

Gait Posture 2018 05 7;62:451-457. Epub 2018 Apr 7.

Department of Neurology, University of Münster, Albert-Schweitzer Campus 1, 48149 Münster, Germany; George-Huntington-Institute, Deilmann-Building IV, Technology-Park, Johann-Krane Weg 27, 48149 Münster, Germany; Institute for Clinical Radiology, University of Münster, Albert-Schweitzer Campus 1, 48149 Münster, Germany; Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain, Research, University of Tübingen, Tübingen, Germany. Electronic address:

Background: Deficits in posture and gait are known to contribute to the complex motor phenotype of Huntington disease (HD). Objective and quantitative measures of posture and gait provided by posturography and GAITRite assessments may supplement categorical rating scales such as the UHDRS-TMS and increase power and sensitivity of clinical trials.

Objectives: To investigate whether posturography and GAITRite measures reveal (1) changes in manifest or premanifest HD mutation-carriers, (2) a correlation to the UHDRS-TMS and functional measures in manifest HD, and (3) a correlation to the disease-burden-score (based on CAG-repeat-length and age). Read More

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http://dx.doi.org/10.1016/j.gaitpost.2018.03.039DOI Listing
May 2018
5 Reads
1 Citation
2.750 Impact Factor

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.

Brain Dev 2018 Aug 3;40(7):576-581. Epub 2018 Apr 3.

Sanin Rosai Hospital, Yonago, Japan.

A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.03.004DOI Listing
August 2018
13 Reads

Paediatric non-ketotic hyperglycaemic hemichorea-hemiballismus.

BMJ Case Rep 2018 Apr 5;2018. Epub 2018 Apr 5.

Department of Neurosciences, University of the Philippines Manila College of Medicine, Manila, Philippines.

Non-ketotic hyperglycaemic hemichorea-hemiballismus (NHHH) is commonly seen among elderly Asian women with type 2 diabetes mellitus. Here, we present a case of a 16-year-old Filipina with type 1 diabetes mellitus who is poorly compliant to her medications and subsequently developed right hemichorea-hemiballismus (HH). She was initially admitted with hyperglycaemia but was negative for ketonuria or metabolic acidosis. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22342
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http://dx.doi.org/10.1136/bcr-2017-223429DOI Listing
April 2018
2 Reads

A Study of Triplet-Primed PCR for Identification of CAG Repeat Expansion in the HTT Gene in a Cohort of 503 Indian Cases with Huntington's Disease Symptoms.

Mol Diagn Ther 2018 06;22(3):353-359

Department of Molecular Pathology, Metropolis Healthcare Ltd, Commercial Building A, Unit No. 409 to 416, 4th Floor, Kohinoor City, Near Kohinoor Mall, Kirol Road, Kurla-W, Mumbai, 400 070, India.

Background: Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene. Genetic tests that accurately determine the number of CAG repeats are performed for confirmation of diagnosis, predictive testing of persons at genetic risk for inheriting HD, and prenatal testing. Read More

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http://dx.doi.org/10.1007/s40291-018-0327-yDOI Listing
June 2018
12 Reads
2.890 Impact Factor

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

Intern Med 2018 Aug 30;57(16):2399-2402. Epub 2018 Mar 30.

Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan.

The authors report a man who developed oral dyskinesia at 46 years of age, followed by slowly progressive choreic movement and mild cognitive impairment over 20 years. He showed caudate atrophy and four types of intracranial calcification in the hippocampus (dot-like), cerebellar white matter (vague-mass), occipital cortices (laminar), and cerebral white matter (linear). Linear-calcification in the corona radiata seems to be deposition along small veins, which may be related to the white matter changes and to the decreased regional cerebral blood flow in the frontal and parietal lobes. Read More

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http://dx.doi.org/10.2169/internalmedicine.9454-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148178PMC
August 2018
2 Reads

Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases.

Eur J Med Genet 2018 Oct 23;61(10):575-580. Epub 2018 Mar 23.

IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Salazar, Universidade do Porto, Porto, Portugal.

This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met). 196 clinical records of persons who performed PST at least three years ago and answered to the two stages of evaluation (before PST and least 3 years after disclosure of results) were analysed. For this purpose, regression analysis was performed, showing that the Positive Symptom Distress Index (PSDI), psychoticism, somatization and paranoid ideation dimensions assume predictive value in the middle and long-term impact for total anxiety and PSDI. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.03.010DOI Listing
October 2018
7 Reads

Spectrum of hyperosmolar hyperglycaemic state in neurology practice.

Indian J Med Res 2017 Nov;146(Supplement):S1-S7

Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Background & Objectives: Hyperosmolar hyperglycaemic state (HHS) is a medical emergency, but there is a paucity of studies reporting the spectrum of neurological manifestations of HHS. We, therefore, report the neurological spectrum, triggering factors and outcome of HHS in general neurology practice.

Methods: The records of the patients with HHS were extracted from computerized hospital information system and those managed currently were prospectively included. Read More

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http://dx.doi.org/10.4103/ijmr.IJMR_57_15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890590PMC
November 2017
7 Reads

Relationships Among Apathy, Health-Related Quality of Life, and Function in Huntington's Disease.

J Neuropsychiatry Clin Neurosci 2018 21;30(3):194-201. Epub 2018 Mar 21.

From the Departments of Health Care Sciences and Neurology, Wayne State University, Detroit (NEF); the Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor (NRB, NEC); the Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University, Clayton, Victoria, Australia (JCS); the Department of Psychological and Brain Sciences, University of Massachusetts Amherst, Amherst (RR); the Departments of Neurology, Radiology, Neuroscience, Physical Therapy, and Occupational Therapy, Washington University, St. Louis (JSP, SB); the Department of Neurology, Department of Psychiatry, and Department of Psychological and Brain Sciences, University of Iowa, Iowa City (JSP); the Department of Medical and Molecular Genetics, Indiana University, Indianapolis (KQ); the Department of Psychiatry, Rutgers University Robert Wood Johnson Medical School, Piscataway, NJ (MKM); Department of Pathology, Rowan University, School of Medicine, Stratford, NJ (MKM); and the Department of Neurology, University of California Los Angeles, Los Angeles (SLP).

Up to 90% of individuals with Huntington's disease (HD)-a progressive, inherited neurodegenerative disorder-experience apathy. Apathy is particularly debilitating because it is marked by a reduction in goal-directed behaviors, including self-care, social interactions, and mobility. The objective of this study was to examine relationships between variables of apathy, functional status, physical function, cognitive function, behavioral status/emotional function, and health-related quality of life. Read More

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http://dx.doi.org/10.1176/appi.neuropsych.17080173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081241PMC
November 2018
5 Reads

Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) Enhances Hippocampal Synaptic Plasticity and Improves Memory Performance in Huntington's Disease.

Mol Neurobiol 2018 Nov 10;55(11):8263-8277. Epub 2018 Mar 10.

New Therapeutic Targets Group, Department of Medical Science, School of Medicine, Universitat de Girona, Girona, Spain.

Deficits in hippocampal synaptic plasticity result in cognitive impairment in Huntington's disease (HD). Pituitary adenylate cyclase-activating polypeptide (PACAP) is a neuropeptide that exerts neuroprotective actions, mainly through the PAC1 receptor. However, the role of PACAP in cognition is poorly understood, and no data exists in the context of Huntington's disease (HD). Read More

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http://dx.doi.org/10.1007/s12035-018-0972-5DOI Listing
November 2018
3 Reads

Pediatric movement disorders.

Neurol India 2018 Mar-Apr;66(Supplement):S59-S67

Department of Neurology, P D Hinduja National Hospital, Mumbai, Maharashtra, India.

Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. Read More

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http://www.neurologyindia.com/text.asp?2018/66/7/59/226447
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http://dx.doi.org/10.4103/0028-3886.226447DOI Listing
March 2018
9 Reads

Premanifest Huntington's disease: Examination of oculomotor abnormalities in clinical practice.

PLoS One 2018 1;13(3):e0193866. Epub 2018 Mar 1.

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

Introduction: Different oculomotor abnormalities have been reported to occur in premanifest Huntington's disease. The aim of this study is to investigate which oculomotor items of the Unified Huntington's Disease Rating Scale (UHDRS) are affected in premanifest individuals compared to healthy controls, and if CAG repeat length and age are correlated with oculomotor abnormalities in premanifest Huntington's disease gene carriers.

Methods: We compared baseline data of 70 premanifest individuals and 27 controls who participated in the Enroll-HD study at the Leiden University Medical Center, the Netherlands. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0193866PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832368PMC
June 2018
1 Read

Cerebrospinal fluid sCD27 levels indicate active T cell-mediated inflammation in premanifest Huntington's disease.

PLoS One 2018 23;13(2):e0193492. Epub 2018 Feb 23.

Department of Neuroscience, Neurosurgery, Uppsala University, Uppsala, Sweden.

Introduction: Huntington's disease (HD) is a neurodegenerative disorder, but evidence also suggests neuroinflammation in the pathogenesis. The immune mechanisms involved and the timing of their activation need further clarification.

Methods: A clinically well-characterized HD cohort and gene negative controls were enrolled. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0193492PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825143PMC
June 2018
8 Reads

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

Neurol Sci 2018 Apr 13;39(4):741-744. Epub 2018 Feb 13.

Neurology Department, Centro Hospitalar do Porto, Largo do Professor Abel Salazar, 4099-001, Porto, Portugal.

The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database. Read More

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http://dx.doi.org/10.1007/s10072-018-3268-7DOI Listing
April 2018
1 Read

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

Ann Clin Transl Neurol 2018 01 4;5(1):102-108. Epub 2017 Dec 4.

Ataxia Centre Department of Molecular Neuroscience University College London Institute of Neurology London WC1N 3BG United Kingdom.

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. Read More

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http://dx.doi.org/10.1002/acn3.511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771320PMC
January 2018
2 Reads

Cognitive Performance and Apathy Predict Unemployment in Huntington's Disease Mutation Carriers.

J Neuropsychiatry Clin Neurosci 2018 12;30(3):188-193. Epub 2018 Jan 12.

From the Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands (MJ, RACR); and the Centre for Human Drug Research, Leiden, the Netherlands (EPH).

Unemployment is common for those with Huntington's disease (HD), a genetic neurodegenerative disorder, and affects patients' quality of life. HD is characterized by motor disturbances, cognitive dysfunction, and psychiatric symptoms. The purpose of this article was to determine which clinical signs of HD are predictive of unemployment. Read More

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http://dx.doi.org/10.1176/appi.neuropsych.17070144DOI Listing
November 2018
1 Read

Faulty neuronal determination and cell polarization are reverted by modulating HD early phenotypes.

Proc Natl Acad Sci U S A 2018 01 8;115(4):E762-E771. Epub 2018 Jan 8.

Laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases, Department of Biosciences, University of Milan, 20122 Milan, Italy;

Increasing evidence suggests that early neurodevelopmental defects in Huntington's disease (HD) patients could contribute to the later adult neurodegenerative phenotype. Here, by using HD-derived induced pluripotent stem cell lines, we report that early telencephalic induction and late neural identity are affected in cortical and striatal populations. We show that a large CAG expansion causes complete failure of the neuro-ectodermal acquisition, while cells carrying shorter CAGs repeats show gross abnormalities in neural rosette formation as well as disrupted cytoarchitecture in cortical organoids. Read More

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http://www.pnas.org/lookup/doi/10.1073/pnas.1715865115
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http://dx.doi.org/10.1073/pnas.1715865115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789931PMC
January 2018
1 Read

Choreoathetosis - an unusual adverse effect of dihydroartemisinin-piperaquine: a case report.

J Med Case Rep 2017 Dec 28;11(1):360. Epub 2017 Dec 28.

Faculty of Health Sciences, University of Buea, Buea, Cameroon.

Background: Dihydroartemisinin-piperaquine is a combination of dihydroartemisinin and piperaquine which is highly effective in the treatment of uncomplicated falciparum malaria. Its adverse effects are generally tolerable and temporary. Choreoathetosis, an involuntary movement disorder characterized by continuous irregular twisting of the body, is not a documented adverse effect of this medication. Read More

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http://dx.doi.org/10.1186/s13256-017-1525-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745622PMC
December 2017
3 Reads

Sertraline-induced Hemichorea.

Tremor Other Hyperkinet Mov (N Y) 2017 18;7:518. Epub 2017 Dec 18.

Department of Neurology, Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina.

Background: Hemichorea-hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported. Read More

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http://dx.doi.org/10.7916/D8XK999FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740228PMC
September 2018
2 Reads