keyword
MENU ▼
Read by QxMD icon Read
search

paroxysmal movement disorders

keyword
https://www.readbyqxmd.com/read/29396171/atp1a3-spectrum-disorders-a-video-documented-history-of-7-genetically-confirmed-early-onset-cases
#1
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29366536/transient-benign-paroxysmal-movement-disorders-in-infancy
#2
REVIEW
Emilio Fernández-Alvarez
This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized by their favourable outcome. We pay special attention to the recognition and management of these abnormal motor conditions strongly suggestive of epileptic disorders. They include: neonatal jitteriness; benign neonatal sleep myoclonus; benign paroxysmal tonic upgaze; paroxysmal tonic downgaze, benign paroxysmal torticollis and benign polymorphous movement disorder of infancy...
January 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29356177/proline-rich-transmembrane-protein-2-negative-paroxysmal-kinesigenic-dyskinesia-clinical-and-genetic-analyses-of-163-patients
#3
Wo-Tu Tian, Xiao-Jun Huang, Xiao Mao, Qing Liu, Xiao-Li Liu, Sheng Zeng, Xia-Nan Guo, Jun-Yi Shen, Yang-Qi Xu, Hui-Dong Tang, Xiao-Meng Yin, Mei Zhang, Wei-Guo Tang, Xiao-Rong Liu, Bei-Sha Tang, Sheng-Di Chen, Li Cao
BACKGROUND: Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline-rich transmembrane protein 2 mutations. OBJECTIVE: The objective of this study was to investigate potential causative genes and clinical characteristics in proline-rich transmembrane protein 2-negative patients with paroxysmal kinesigenic dyskinesia. METHODS: We analyzed clinical manifestations and performed exome sequencing in a cohort of 163 proline-rich transmembrane protein 2-negative probands, followed by filtering data with a paroxysmal movement disorders gene panel...
January 22, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29282340/-from-involuntary-movements-to-movement-disorders
#4
Toshio Fukutake
Apart from the term 'involuntary movements', the term 'movement disorders' encompasses not only classical hyperkinesias but also hypokinesias including catalepsy or apraxia. It enables us to understand abnormal movements by their phenomena instead of by their localization. To advance the grasping of movement disorders, we discuss the clinical and pathophysiological features of abnormal movements in catatonia/catalepsy, anti-NMDAR encephalitis, paroxysmal dyskinesias, stiff person/leg syndrome, corticobasal degeneration/syndrome, and hysteria...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29167286/a-novel-prrt2-pathogenic-variant-in-a-family-with-paroxysmal-kinesigenic-dyskinesia-and-benign-familial-infantile-seizures
#5
Jacqueline G Lu, Juliet Bishop, Sarah Cheyette, Igor B Zhulin, Su Guo, Nara Sobreira, Steven E Brenner
Paroxysmal Kinesigenic Dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole exome sequencing has revealed a cluster of pathogenic variants in PRRT2 (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly understood. Here, we report the discovery of a novel PRRT2 pathogenic variant inherited in an autosomal dominant pattern in a family with PKD and Benign Familial Infantile Seizures (BFIS)...
November 22, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29095389/paroxysmal-tonic-upgaze-in-children-three-case-reports-and-a-review-of-the-literature
#6
Ayse Kartal
BACKGROUND: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events are mostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist...
October 31, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#7
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28961260/biochemical-phenotyping-unravels-novel-metabolic-abnormalities-and-potential-biomarkers-associated-with-treatment-of-glut1-deficiency-with-ketogenic-diet
#8
Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, movement disorders, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting...
2017: PloS One
https://www.readbyqxmd.com/read/28860775/a-case-of-paroxysmal-kinesigenic-dyskinesia-which-exhibited-the-phenotype-of-anxiety-disorder
#9
Yasuto Kunii, Nozomu Matsuda, Hirooki Yabe
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare heritable neurologic disorder characterized by attacks of involuntary movement induced by sudden voluntary movements. No previous reports have described cases showing comorbidity with psychiatric disease or symptoms. In this case, we showed a patient with PKD who exhibited several manifestations of anxiety disorder. CASE: A 35-year-old Japanese man with PKD had been maintained on carbamazepine since he was 16 years of age without any attacks...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28842725/-diagnosis-of-non-epileptic-paroxysmal-disorders-and-epileptic-seizures
#10
REVIEW
S Noachtar, B Güldiken
Non-epileptic paroxysmal disorders may clinically manifest in a similar way to epileptic seizures and have to be considered in the differential diagnosis of epilepsy. Syncope, non-epileptic psychogenic seizures, paroxysmal movement disorders, migraine, transient ischemic attacks and parasomnia constitute the major differential diagnoses. A meticulous history and a third party description are useful for the differential diagnosis. Neurological, psychiatric and cardiological examinations are required for the correct differential diagnosis...
October 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28836553/depression-anxiety-and-quality-of-life-in-paroxysmal-kinesigenic-dyskinesia-patients
#11
Wo-Tu Tian, Xiao-Jun Huang, Xiao-Li Liu, Jun-Yi Shen, Gui-Ling Liang, Chen-Xi Zhu, Wei-Guo Tang, Sheng-Di Chen, Yan-Yan Song, Li Cao
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by recurrent dystonic or choreoathetoid attacks triggered by sudden voluntary movements. Under the condition of psychological burden, some patients' attacks may get worsened with longer duration and higher frequency. This study aimed to assess nonmotor symptoms and quality of life of patients with PKD in a large population. METHODS: We performed a cross-sectional survey in 165 primary PKD patients from August 2008 to October 2016 in Rui Jin Hospital, using Symptom Check List-90-Revised (SCL-90-R), World Health Organization Quality of Life-100 (WHOQoL-100), Self-Rating Depression Scale, and Self-Rating Anxiety Scale...
September 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28767521/disabling-central-paroxysmal-positioning-upbeat-nystagmus-and-vertigo-associated-with-the-presence-of-anti-glutamic-acid-decarboxylase-antibodies
#12
Ana I Martins, João N Carvalho, Ana M Amorim, Argemiro Geraldo, Eric Eggenberger, João Lemos
An immune attack by anti-glutamic acid decarboxylase (GAD) antibodies is believed to cause a deficiency in gamma-aminobutyric acid-mediated neurotransmission in the cerebellum. This, in turn, leads to several eye movement disorders, including spontaneous downbeat (DBN) and periodic alternating nystagmus. We describe a 68-year-old diabetic woman with disabling paroxysmal positioning upbeat nystagmus (UBN) exclusively in the supine position, associated with asymptomatic spontaneous DBN, alternating skew deviation and hyperactive vestibulo-ocular reflex responses on head impulse testing, in whom high titers of anti-GAD antibodies were detected...
August 1, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28747835/non-epileptic-paroxysmal-events-in-childhood
#13
Burak Tatlı, Serhat Güler
Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. The duration, place, timing of the attacks, and state of conciousness may confuse pediatricians about the diagnosis of epilepsy and non epileptic paroxysmal events. The key point in the diagnosis is taking an accurate and detailed history. Wrong diagnosis can give rise to anxiety of both the family and the child, interruptions in the child's education, limitations in career planning, and irreversible damages in the long term...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28706744/management-of-oromandibular-dystonia-a-case-report-and-literature-update
#14
Suma Gn, Adrita Nag
Oromandibular dystonia (OMD) is a movement disorder characterized by involuntary, paroxysmal, and patterned muscle contractions of varying severity resulting in sustained spasms of masticatory muscles, affecting the jaws, tongue, face, and pharynx. It is most commonly idiopathic or medication-induced, but peripheral trauma sometimes precedes the condition. We present a case report of a 26-year-old female patient who suffered repetitive bouts of hemifacial muscle contractions for 2 years on closing the mouth which interfered in patient's well-being and quality of life by hampering her ability to eat and talk and to the extent of inability to breath due to contractions of her neck muscles...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28703446/paroxysmal-dyskinesia-in-border-terriers-clinical-epidemiological-and-genetic-investigations
#15
Q E M Stassen, L L E Koskinen, F G van Steenbeek, E H Seppälä, T S Jokinen, P G M Prins, H G J Bok, M M J M Zandvliet, M Vos-Loohuis, P A J Leegwater, H Lohi
BACKGROUND: In the last decade, a disorder characterized by episodes of involuntary movements and dystonia has been recognized in Border Terriers. OBJECTIVES: To define clinical features of paroxysmal dyskinesia (PD) in a large number of Border Terriers and to study the genetics of the disease. ANIMALS: 110 affected and 128 unaffected client-owned Border Terriers. METHODS: A questionnaire regarding clinical characteristics of PD was designed at Utrecht University and the University of Helsinki...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28525812/clinical-characteristics-and-prrt2-gene-mutation-analysis-of-sporadic-patients-with-paroxysmal-kinesigenic-dyskinesia-in-china
#16
Yu Zhang, Lin Li, Wei Chen, Jing Gan, Zhen Guo Liu
OBJECTIVE: As a rare type of movement disorder, paroxysmal kinesigenic dyskinesia mainly affects children and is associated with PRRT2 gene mutation. The objective of our study is to identify whether the sporadic patients share the same genotype-phenotype correlations as familial patients in China. PATIENTS AND METHODS: We investigated the clinical characteristics and PRRT2 gene mutations of 15 sporadic patients with paroxysmal kinesigenic dyskinesia in china. The clinical and investigational data of our patients was recorded and analyzed meticulously...
August 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28485653/vestibular-rehabilitation-in-benign-paroxysmal-positional-vertigo-reality-or-fiction
#17
Federica Bressi, Paola Vella, Manuele Casale, Antonio Moffa, Lorenzo Sabatino, Michele Antonio Lopez, Francesco Carinci, Rocco Papalia, Fabrizio Salvinelli, Silvia Sterzi
The objective of this article is to systematically review the evidence on the effectiveness of vestibular rehabilitation (VR) in patients with benign paroxysmal positional vertigo (BPPV). Relevant published studies about VR in BPPV were searched in PubMed, Google Scholar and Ovid using various keywords. We included trials that were available in the English language and did not apply publication year or publication status restrictions. Studies based on the VR in other peripheral and/or central balance disorders are excluded...
June 2017: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/28427022/stereotypy-of-psychogenic-nonepileptic-seizures
#18
Moshe Herskovitz
Psychogenic nonepileptic seizures (PNES) are defined as paroxysmal episodes in which epileptic semiology features are manifested, without the characteristic concomitant electrical discharges seen in epileptic seizures. Although many studies have dealt with semiologic classification of PNES, most of the studies did not raise the question of consistency of PNES in the same patient. The aim of this study was to measure the degree of consistency of PNES among individual patients. We retrospectively reviewed medical records and video- EEG records of all adult patients who underwent monitoring in our center from August 1st 2013 to May 31st 2015...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28397579/secondary-paroxysmal-dyskinesia-in-multiple-sclerosis-clinical-radiological-features-and-treatment-case-report-of-seven-patients
#19
Ethel Ciampi, Reinaldo Uribe-San-Martín, Jaime Godoy-Santín, Juan Pablo Cruz, Claudia Cárcamo-Rodríguez, Carlos Juri
Secondary paroxysmal dyskinesias (SPDs) are short, episodic, and recurrent movement disorders, classically related to multiple sclerosis (MS). Carbamazepine is effective, but with risk of adverse reactions. We identified 7 patients with SPD among 457 MS patients (1.53%). SPD occurred in face ( n = 1), leg ( n = 2), or arm +leg ( n = 4) several times during the day. Magnetic resonance imaging (MRI) showed new or enhancing lesions in thalamus ( n = 1), mesencephalic tegmentum ( n = 1), and cerebellar peduncles ( n = 5)...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28397578/paroxysmal-kinesigenic-dyskinesia-like-phenotype-in-multiple-sclerosis
#20
Roxana Pop, Stefan Kipfer
In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
keyword
keyword
104479
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"