6,974 results match your criteria Chorea in Adults


Methylphenidate Can Improve Chorea in and Mutation-positive Patients-A Report of Two Children.

Mov Disord Clin Pract 2018 May-Jun;5(3):343-345. Epub 2018 Apr 6.

University of Lübeck, Institute of Neurogenetics, Department of Pediatric and Adult Movement Disorders and Neuropsychiatry 23562, Lübeck DE.

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http://dx.doi.org/10.1002/mdc3.12608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336415PMC

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel Mutation.

Front Neurol 2018 9;9:1168. Epub 2019 Jan 9.

Department of Neurology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.

Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the gene with an autosomal recessive transmission. We report a consanguineous Turkish family with a different and informative clinical and diagnostic course. Read More

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http://dx.doi.org/10.3389/fneur.2018.01168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334619PMC
January 2019

Neuroacanthocytosis with unusual clinical features: A case report.

Medicine (Baltimore) 2019 Jan;98(2):e14050

Department of Neurology, The First Hospital, Jilin University, Changchun, China.

Rationale: Neuroacanthocytosis (NA) is a heterogeneous group of inherited neurodegenerative disorders characterized by misshapen spiculated erythorcytes and symptoms that resemble Huntington's disease.

Patient Concerns: A 59-year-old female who developed hyperkinetic involuntary movements that became progressively more obvious during the course of a year.

Diagnoses: Acanthocytes were observed in a peripheral blood smear. Read More

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http://dx.doi.org/10.1097/MD.0000000000014050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336636PMC
January 2019
11 Reads

An active cognitive lifestyle as a potential neuroprotective factor in Huntington's disease.

Neuropsychologia 2019 01 26;122:116-124. Epub 2018 Oct 26.

Cognition and Brain Plasticity Unit, Neuroscience Program, IDIBELL (Institut d'Investigació Biomèdica de Bellvitge), L'Hospitalet de Llobregat, Barcelona, Spain. Electronic address:

A cognitive stimulating lifestyle has been observed to confer cognitive benefits in multiple neurodegenerative diseases. However, the underlying neurobiological basis of this phenomenon remains unclear. Huntington's disease can provide a suitable model to study the effects and neural mechanisms of cognitive engagement in neurodegeneration. Read More

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http://dx.doi.org/10.1016/j.neuropsychologia.2018.10.017DOI Listing
January 2019
10 Reads

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

Thermoregulatory disorders in Huntington disease.

Handb Clin Neurol 2018 ;157:761-775

Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.

Huntington disease (HD) is a paradigmatic autosomal-dominant adult-onset neurodegenerative disease. Since the identification of an abnormal expansion of a trinucleotide repeat tract in the huntingtin gene as the underlying genetic defect, a broad range of transgenic animal models of the disease has become available and these have helped to unravel the relevant molecular pathways in unprecedented detail. Of note, some of the most informative of these models develop thermoregulatory defects such as hypothermia, problems with adaptive thermogenesis, and an altered circadian temperature rhythm. Read More

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http://dx.doi.org/10.1016/B978-0-444-64074-1.00047-1DOI Listing
March 2019
16 Reads

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
3 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
9 Reads

Phenytoin Induced Chorea: A Rare Adverse Effect of the Drug.

Curr Drug Saf 2019 ;14(1):51-52

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
January 2019
3 Reads

Classification of Gait Patterns in Patients with Neurodegenerative Disease Using Adaptive Neuro-Fuzzy Inference System.

Comput Math Methods Med 2018 30;2018:9831252. Epub 2018 Sep 30.

Institute of Intelligent Machines, Chinese Academy of Sciences, Hefei 230031, China.

A common feature that is typical of the patients with neurodegenerative (ND) disease is the impairment of motor function, which can interrupt the pathway from cerebrum to the muscle and thus cause movement disorders. For patients with amyotrophic lateral sclerosis disease (ALS), the impairment is caused by the loss of motor neurons. While for patients with Parkinson's disease (PD) and Huntington's disease (HD), it is related to the basal ganglia dysfunction. Read More

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https://www.hindawi.com/journals/cmmm/2018/9831252/
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http://dx.doi.org/10.1155/2018/9831252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186329PMC
February 2019
14 Reads

Selection of Reference Regions to Model Neurodegeneration in Huntington Disease by 18F-FDG PET/CT Using Imaging and Clinical Parameters.

Clin Nucl Med 2019 01;44(1):e1-e5

Nuclear Medicine Department, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona.

Objective: Normalization to an appropriate reference region in F-FDG PET imaging may enhance diagnostic performance in Huntington disease (HD). We aimed to identify stable brain areas that could be used to model neurometabolic degeneration in HD correlating imaging (SUVrvalues at the basal ganglia [BBGG]) and clinical parameters (disease burden score [DBS]).

Materials And Methods: We performed brain F-FDG PET/CT in 38 manifest HD patients (meanage ± SD, 54 ± 14. Read More

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http://Insights.ovid.com/crossref?an=00003072-900000000-9741
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http://dx.doi.org/10.1097/RLU.0000000000002329DOI Listing
January 2019
14 Reads

Movement disorders in emergency settings: a prospective study.

Neurol Sci 2019 Jan 15;40(1):133-138. Epub 2018 Oct 15.

Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, Neurology Unit, University of Verona, Verona, Italy.

Introduction: Acute movement disorders (MD) are etiologically heterogeneous entities. Since studies on the relative frequency of different MD and their underlying diseases are limited, we performed a prospective study to investigate the spectrum of various MD and their causes in patients presenting with acute MD in an emergency room (ER) setting.

Objective: To describe the spectrum and outcomes of acute MD in a prospective cohort and to guide its management. Read More

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http://link.springer.com/10.1007/s10072-018-3601-1
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http://dx.doi.org/10.1007/s10072-018-3601-1DOI Listing
January 2019
10 Reads

Nivolumab induced encephalopathy in a man with metastatic renal cell cancer: a case report.

J Med Case Rep 2018 Sep 15;12(1):262. Epub 2018 Sep 15.

Department of Clinical Oncology and Radiotherapy, University Hospital in Hradec Králové, Sokolská 581, 50005, Hradec Králové, Czech Republic.

Background: Great progress has recently been made in the treatment of metastatic renal cell carcinoma, including the introduction of nivolumab, an immune checkpoint inhibitor. Despite promising results, this treatment brings a completely new spectrum of adverse events, distinct from those experienced with small-molecule kinase inhibitors. Neurologic immune-related adverse events may be serious and potentially life-threatening complications requiring immediate immunosuppressive therapy. Read More

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http://dx.doi.org/10.1186/s13256-018-1786-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138913PMC
September 2018
15 Reads

Executive impairment is associated with unawareness of neuropsychiatric symptoms in premanifest and early Huntington's disease.

Neuropsychology 2018 Nov 13;32(8):958-965. Epub 2018 Sep 13.

Monash Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University.

Objective: Unawareness of neuropsychiatric symptoms appears to be common in Huntington's disease (HD), but the clinical correlates of unawareness are unclear. Identifying predictors of unawareness is important for improving diagnosis of neuropsychiatric symptoms, and cognitive impairment, specifically executive impairment, may be a potential important predictor of unawareness. The authors examined whether unawareness of neuropsychiatric symptoms is more common in early HD compared to premanifest HD, and whether executive task performance was associated with awareness, independent of demographic, motor or mood variables. Read More

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http://dx.doi.org/10.1037/neu0000479DOI Listing
November 2018
20 Reads

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
7 Reads

Delayed onset dancing hand syndrome following thalamic hemorrhage.

Neurol Sci 2019 Jan 28;40(1):189-191. Epub 2018 Aug 28.

Department of Neurology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, 751019, India.

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http://link.springer.com/10.1007/s10072-018-3549-1
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http://dx.doi.org/10.1007/s10072-018-3549-1DOI Listing
January 2019
22 Reads

Auditory time perception in Huntington's disease.

Neuropsychologia 2018 10 22;119:247-252. Epub 2018 Aug 22.

Swiss Huntington's Disease Centre, Neurozentrum Siloah, Gümligen, Switzerland; Department of Neurology, University of Bern, Switzerland. Electronic address:

Background: Huntington's disease (HD) is characterized by early involvement of the striatum. It affects the pace of repetitive motor activity, as motor timing depends on basal ganglia activity. However, data are lacking on the impact of this process on auditory time perception in motor non-affected gene carriers. Read More

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http://dx.doi.org/10.1016/j.neuropsychologia.2018.08.018DOI Listing
October 2018
2 Reads

Complex spatial and temporally defined myelin and axonal degeneration in Huntington disease.

Neuroimage Clin 2018 19;20:236-242. Epub 2018 Feb 19.

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

Although much prior work has focused on the basal ganglia and cortical pathology that defines Huntington's disease (HD), recent studies have also begun to characterize cerebral white matter damage (Rosas et al., 2006; Dumas et al., 2012; Poudel et al. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.01.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078048PMC
January 2019
22 Reads

Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.

Mol Cell Neurosci 2018 10 3;92:137-148. Epub 2018 Aug 3.

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany; Center for Regenerative Therapies Dresden (CRTD), Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany; Universitäts Centrum für seltene Erkrankungen, Technische Universität Dresden, Dresden, Germany. Electronic address:

Mutations in the VPS13A gene leading to depletion of chorein protein are causative for Chorea Acanthocytosis (ChAc), a rare devastating disease, which is characterized by neurodegeneration mainly affecting the basal ganglia as well as deformation of erythrocytes. Studies on patient blood samples highlighted a dysregulation of Actin cytoskeleton caused by downregulation of the PI3K pathway and hyper-activation of Lyn-kinase, but to what extent these mechanisms are present and relevant in the affected neurons remains elusive. We studied the effects of the absence of chorein protein on the morphology and trafficking of lysosomal and mitochondrial compartments in ChAc patient-specific induced pluripotent stem cell-derived medium spiny neurons (MSNs). Read More

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http://dx.doi.org/10.1016/j.mcn.2018.08.002DOI Listing
October 2018
1 Read

Effects of multidisciplinary therapy on physical function in Huntington's disease.

Acta Neurol Scand 2018 Dec 30;138(6):500-507. Epub 2018 Jul 30.

School of Medical and Health Sciences, Edith Cowan University, Perth, Western Australia, Australia.

Objective: The primary objective of this trial was to evaluate the effects of outpatient multidisciplinary therapy, compared to usual care, on measures of physical function and muscle strength in patients with manifest Huntington's disease (HD).

Methods: Twenty-two patients with clinically verified HD were randomized to receive 36 weeks of outpatient multidisciplinary therapy or usual care. Outpatient multidisciplinary therapy comprised 9 months of supervised exercise, cognitive therapy and self-directed home-based exercise. Read More

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http://dx.doi.org/10.1111/ane.13002DOI Listing
December 2018
8 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
10 Reads

Apathy and atrophy of subcortical brain structures in Huntington's disease: A two-year follow-up study.

Neuroimage Clin 2018 27;19:66-70. Epub 2018 Mar 27.

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

Background: Huntington's disease (HD) is characterized by motor and behavioral symptoms, and cognitive decline. HD gene carriers and their caregivers report the behavioral and cognitive symptoms as the most burdensome. Apathy is the most common behavioral symptom of HD and is related to clinical measures of disease progression, like functional capacity. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051315PMC
January 2019
8 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
1 Read

Baseline multimodal information predicts future motor impairment in premanifest Huntington's disease.

Neuroimage Clin 2018 9;19:443-453. Epub 2018 May 9.

IBM T.J. Watson Research Center, Yorktown Heights, NY, USA.

In Huntington's disease (HD), accurate estimates of expected future motor impairments are key for clinical trials. Individual prognosis is only partially explained by genetics. However, studies so far have focused on predicting the time to clinical diagnosis based on fixed impairment levels, as opposed to predicting impairment in time windows comparable to the duration of a clinical trial. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029560PMC
January 2019
1 Read

[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
16 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
15 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
29 Reads

Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis.

Pediatr Radiol 2018 09 20;48(10):1463-1471. Epub 2018 Jun 20.

Department of Medical Imaging, Rouen University Hospital, 31 rue de Germont, 76000, Rouen, France.

Background: The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease.

Objective: To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington disease patients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy.

Materials And Methods: We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Read More

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http://dx.doi.org/10.1007/s00247-018-4167-zDOI Listing
September 2018
3 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
3 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
16 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
2 Reads

Reduced amygdala volumes are related to motor and cognitive signs in Huntington's disease: The IMAGE-HD study.

Neuroimage Clin 2018 22;18:881-887. Epub 2018 Mar 22.

Monash Institute of Cognitive and Clinical Neuroscience, School of Psychological Sciences, Monash University, Melbourne, Australia.

In Huntington's disease (HD), the presence of neurodegeneration in brain regions other than the striatum has been recently gaining attention. The amygdala is one such area, which has been investigated in only eight structural magnetic resonance imaging studies to date, but with inconsistent findings. This is the largest MRI study to date examining manually traced amygdala volumes in HD participants and the relationship of amygdala volumes to clinical measures of HD. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.03.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988225PMC
January 2019
2 Reads

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
3 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
24 Reads

Robust Induction of DARPP32-Expressing GABAergic Striatal Neurons from Human Pluripotent Stem Cells.

Methods Mol Biol 2018 ;1780:585-605

Neuroscience and Mental Health Research Institute, School of Bioscience, Cardiff University, Cardiff, UK.

Efficient generation of disease relevant neuronal subtypes from human pluripotent stem cells (PSCs) is fundamental for realizing their promise in disease modeling, pharmaceutical drug screening and cell therapy. Here we describe a step-by-step protocol for directing the differentiation of human embryonic and induced PSCs (hESCs and hiPSCs, respectively) toward medium spiny neurons, the type of cells that are preferentially lost in Huntington's disease patients. This method is based on a novel concept of Activin A-dependent induction of the lateral ganglionic/striatal fate using a simple monolayer culture paradigm under chemically defined conditions. Read More

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http://dx.doi.org/10.1007/978-1-4939-7825-0_27DOI Listing
February 2019
3 Reads

Assessing and Modulating Kynurenine Pathway Dynamics in Huntington's Disease: Focus on Kynurenine 3-Monooxygenase.

Methods Mol Biol 2018 ;1780:397-413

Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.

The link between disturbances in kynurenine pathway (KP) metabolism and Huntington's disease (HD) pathogenesis has been explored for a number of years. Several novel genetic and pharmacological tools have recently been developed to modulate key regulatory steps in the KP such as the reaction catalyzed by the enzyme kynurenine 3-monooxygenase (KMO). This insight has offered new options for exploring the mechanistic link between this metabolic pathway and HD, and provided novel opportunities for the development of candidate drug-like compounds. Read More

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http://dx.doi.org/10.1007/978-1-4939-7825-0_18DOI Listing
February 2019
2 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
18 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
24 Reads

A case of normal pressure hydrocephalus presenting as ventriculoperitoneal shunt-responsive dementia and choreodystonia.

Neurol Sci 2018 09 24;39(9):1643-1646. Epub 2018 May 24.

Department of Neurology, Soonchunhyang University Seoul Hospital, Soonchunhyang University School of Medicine, 59 Daesagwan-ro, Yongsan-gu, Seoul, 04401, Republic of Korea.

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http://dx.doi.org/10.1007/s10072-018-3451-xDOI Listing
September 2018

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
7 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
12 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
19 Reads

The asymmetry of neural symptoms in Wilson's disease patients detecting by diffusion tensor imaging, resting-state functional MRI, and susceptibility-weighted imaging.

Brain Behav 2018 05 14;8(5):e00930. Epub 2018 Apr 14.

Department of Neurology The First Affiliated Hospital Sun Yat-Sen University Guangzhou China.

Objective: To investigate the cause of the motor asymmetry in Wilson's disease (WD) patients using functional MRI.

Methods: Fifty patients with WD and 20 age-matched healthy controls were enrolled. Neurological symptoms were scored using the modified Young Scale. Read More

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http://dx.doi.org/10.1002/brb3.930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5943770PMC
May 2018
7 Reads