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https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#1
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28194132/molecular-imaging-markers-to-track-huntington-s-disease-pathology
#2
REVIEW
Heather Wilson, Rosa De Micco, Flavia Niccolini, Marios Politis
Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28183575/choreoathetotic-syndrome-following-cardiac-surgery
#3
Michela Bisciglia, Frédéric London, Jonathan Hulin, André Peeters, Adrian Ivanoiu, Anne Jeanjean
Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically manifesting after a latent period of normality and is usually related with long extracorporeal circulation time and deep hypothermia. We report a 73-year-old woman, without risk factors predisposing to paroxysmal movement disorders, presenting acute choreoathetoid movements 5 days after aortic valvular replacement with normal extracorporeal circulation time and perioperative normothermia...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28168621/the%C3%A2-calretinin-interneurons-of-the-striatum-comparisons-between-rodents-and-primates-under-normal-and-pathological-conditions
#4
REVIEW
S Petryszyn, A Parent, Martin Parent
This paper reviews the major organizational features of calretinin interneurons in the dorsal striatum of rodents and primates, with some insights on the state of these neurons in Parkinson's disease and Huntington's chorea. The rat striatum harbors medium-sized calretinin-immunoreactive (CR(+)) interneurons, whereas the mouse striatum is pervaded by medium-sized CR(+) interneurons together with numerous small and highly immunoreactive CR(+) cells. The CR interneuronal network is even more elaborated in monkey and human striatum where, in addition to the small- and medium-sized CR(+) interneurons, a set of large CR(+) interneurons occurs...
February 6, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28168537/hyperkinetic-movement-disorder-emergencies
#5
REVIEW
Giovanni Cossu, Carlo Colosimo
A movement disorder emergency has been defined by Fahn and Frucht as "any neurological disorder evolving acutely or subacutely, in which the clinical presentation is dominated by a primary movement disorder, and in which failure to accurately diagnose and manage the patient may result in significant morbidity or even mortality." In this review, we discuss the most common situations in which hyperkinetic movement disorders, including chorea, ballism, dystonia, myoclonus, tics, as well as psychogenic disorders, can present as emergencies...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28167472/mri-and-clinical-manifestations-of-delayed-encephalopathy-after-carbon-monoxide-poisoning
#6
Xiahong Wang, Zhenyu Li, Jacqueline Berglass, Wenlong He, Jianmin Zhao, Min Zhang, Chongyang Gao, Caixia Zhang, Huimin Zhang, Xuewei Yi
To explore the relationship between the clinical manifestations and functional magnetic resonance images of delayed encephalopathy after carbon monoxide intoxication. Six patients received the MRI were diagnosed with delayed encephalopathy after carbon monoxide (CO) poisoning. Clinical manifestations were observed in each patient. MRI revealed multiple lesions. The majority of the lesions were located in the globus pallidus, sub cortical white matter, and basal ganglia. The cognitive injury, akinetic mutism, fecal and uroclepsia, forced crying, forced laughing and extra pyramidal syndromes such as chorea and parkinsonism were manifested in clinic...
November 2016: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28166164/phenytoin-induced-chorea-a-case-report
#7
Dalvir Gill, Mitchell Lyons, Fatme Allam
No abstract text is available yet for this article.
January 27, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28120141/autoimmune-movement-disorders-a-clinical-and-laboratory-approach
#8
REVIEW
Josephe Archie Honorat, Andrew McKeon
Autoimmune movement disorders are caused by an aberrant immune response to neural self-antigens. These disorders may be paraneoplastic, parainfectious, or (most commonly) idiopathic. The neurological presentations are diverse, and sometimes multifocal. Movement disorders can occur as part of the spectrum with phenotypes including chorea, myoclonus, ataxia, CNS hyperexcitability (including stiff-person syndrome), dystonia, and parkinsonism. Symptoms are subacute in onset and may have a fluctuating course. The best characterized disorders are unified by neural autoantibodies identified in serum or cerebrospinal fluid...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28111121/risk-factors-for-the-onset-and-progression-of-huntington-disease
#9
Ting-Kuang Chao, Jing Hu, Tamara Pringsheim
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by chorea, behavioural and psychiatric manifestations, and dementia, caused by a CAG triplet repeat expansion in the huntingtin gene. Systematic review of the literature was conducted to determine the risk factors for the onset and progression of HD. Multiple databases were searched, using terms specific to Huntington disease and to studies of aetiology, risk, prevention and genetics, limited to studies on human subjects published in English or French between 1950 and 2010...
January 20, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28107480/drosophila-vps13-is-required-for-protein-homeostasis-in-the-brain
#10
Jan J Vonk, Wondwossen M Yeshaw, Francesco Pinto, Anita I E Faber, Liza L Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C van IJzendoorn, Nicola A Grzeschik, Ody C M Sibon
Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from yeast to human. The consequences of VPS13A dysfunction in the nervous system are still largely unspecified. In order to study the consequences of VPS13A protein dysfunction in the ageing central nervous system we characterized a Drosophila melanogaster Vps13 mutant line...
2017: PloS One
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#11
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28079044/chorea-as-unusual-complication-of-fungicide-poisoning
#12
B S Paul, G Paul, J Kaur, G Singh
Chorea is a rare manifestation of poisoning. We report an index case of a young woman who developed generalized chorea following propiconazole toxin ingestion. As large series on neurological complications of toxic compounds are difficult to be compiled, it is of interest to report our experience. This report adds one more compound to the increasing list of toxic chorea.
January 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28063110/toward-the-next-step-in-g-protein-coupled-receptor-research-a-knowledge-driven-analysis-for-the-next-potential-targets-in-drug-discovery
#13
Koji Nagata, Yukie Katayama, Tomomi Sato, Yeondae Kwon, Takeshi Kawabata
More than 800 G protein-coupled receptor (GPCR) genes have been discovered in the human genome. Towards the next step in GPCR research, we performed a knowledge-driven analysis of orphan class-A GPCRs that may serve as novel targets in drug discovery. We examined the relationship between 61 orphan class-A GPCR genes and diseases using the Online Mendelian Inheritance in Man (OMIM) database and the DDSS tool. The OMIM database contains data on disease-related variants of the genes. Particularly, the variants of GPR101, GPR161, and GPR88 are related to the genetic diseases: growth hormone-secreting pituitary adenoma 2, pituitary stalk interruption syndrome (not confirmed), and childhood-onset chorea with psychomotor retardation, respectively...
December 2016: Journal of Structural and Functional Genomics
https://www.readbyqxmd.com/read/28025607/tonsillectomy-remains-a-questionable-option-for-pediatric-autoimmune-neuropsychiatric-disorders-associated-with-streptococcal-infections-pandas
#14
REVIEW
Jochen P Windfuhr
Background: Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a disease attributed to children with obsessive compulsive disorders (OCD) or tic disorders associated with streptococcal infections. Because otolaryngologists examine a large number of pediatric patients with recurrent streptococcal infections, tonsillectomy (TE) is a common option of therapy. This study was conducted to evaluate the efficacy of TE in patients presenting with verified PANDAS. Material and methods: A PubMed review was performed using search terms "tonsillectomy" and "PANDAS", "OCD", "compulsive" "pediatric autoimmune", "chorea" and "tic" limited by publication date of January 1, 1995, to July 31, 2015...
2016: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/28012953/new-insights-in-the-neurological-phenotype-of-aceruloplasminemia-in-caucasian-patients
#15
Lena H P Vroegindeweij, Janneke G Langendonk, Mirjam Langeveld, Mels Hoogendoorn, Anneke J A Kievit, Domenico Di Raimondo, J H Paul Wilson, Agnita J W Boon
INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline...
December 15, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28012542/audiological-findings-in-children-with-ataxia-telangiectasia-a-t-syndrome
#16
Pretty O Afifi, Hanaa Hussein Elsanadiky
AIM: To assess peripheral and central hearing in children with A-T. METHOD: 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27988871/current-pharmacological-approaches-to-reduce-chorea-in-huntington-s-disease
#17
REVIEW
Emma M Coppen, Raymund A C Roos
There are currently no effective pharmacological agents available to stop or prevent the progression of Huntington's disease (HD), a rare hereditary neurodegenerative disorder. In addition to psychiatric symptoms and cognitive impairments, HD causes progressive motor disturbances, in particular choreiform movements, which are characterized by unwanted contractions of the facial muscles, trunk and extremities. Management of choreiform movements is usually advised if chorea interferes with daily functioning, causes social isolation, gait instability, falls, or physical injury...
January 2017: Drugs
https://www.readbyqxmd.com/read/27983566/survey-of-the-huntington-s-disease-patient-and-caregiver-community-reveals-most-impactful-symptoms-and-treatment-needs
#18
Jennifer A Simpson, Debra Lovecky, Jane Kogan, Louise A Vetter, George J Yohrling
BACKGROUND: In preparation for a meeting with the U.S. Food and Drug Administration (FDA) on Patient-Focused Drug Development in Huntington's disease, the Huntington's Disease Society of America (HDSA) created and distributed two comprehensive surveys on the symptom experience and treatment approaches for Huntington's disease. OBJECTIVE: The objective of these surveys was to identify the specific symptoms that most impact the daily lives of individuals with Huntington's disease/Juvenile Huntington's disease (HD/JHD) and their caregivers and to solicit input on the types of treatments desired by HD affected families...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27960157/chorein-sensitive-orai1-expression-and-store-operated-ca2-entry-in-rhabdomyosarcoma-cells
#19
Willi Yu, Sabina Honisch, Sebastian Schmidt, Jing Yan, Evi Schmid, Saad Alkahtani, Abdullah A AlKahtane, Saud Alarifi, Christos Stournaras, Florian Lang
BACKGROUND: Chorein, a protein encoded by VPS13A (vacuolar protein sorting-associated protein 13A), is defective in chorea acanthocytosis, a rare disease characterized by acanthocytosis of red blood cells and neuronal cell death with progressive hyperkinetic movement disorder, cognitive dysfunction, behavioral abnormalities and chronic hyperkalemia. Chorein is highly expressed in ZF rhabdomyosarcoma cells and counteracts apoptosis of those cells. Chorein is effective in part by interacting with and fostering stimulation of phosphoinositide-3-kinase (PI3K)-p85-subunit...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27942067/anaesthetic-management-of-a-patient-with-huntington-s-chorea-undergoing-robot-assisted-nephron-sparing-surgery
#20
Ankita Batra, Neeru Sahni, Uttam K Mete
No abstract text is available yet for this article.
November 2016: Indian Journal of Anaesthesia
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