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https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#1
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28322177/prevalence-estimate-of-cerebral-palsy-in-northern-alberta-births-2008-2010
#2
Charlene M T Robertson, M Florencia Ricci, Kathleen O'Grady, Maryam Oskoui, Helly Goez, Jerome Y Yager, John C Andersen
OBJECTIVES: The objectives of this study were to determine prevalence estimates of cerebral palsy (CP) among 5-year-old children in northern Alberta; to provide congenital, gestational age- and birth weight-specific, and postneonatal CP rates; and to describe motor subtypes and function. METHODS: This population-based prevalence estimate study, part of the Canadian Cerebral Palsy Registry, reports confirmed CP diagnoses at age 5 years made by pediatric rehabilitation and child neurology specialists...
March 21, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#3
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318734/effects-of-acetone-cyanohydrin-a-derivative-of-cassava-on-motor-activity-and-kidney-and-liver-function-in-wistar-rats
#4
E Rivadeneyra-Domínguez, C J Rosas-Jarquín, A Vázquez-Luna, R Díaz-Sobac, J F Rodríguez-Landa
INTRODUCTION: Acetone cyanohydrin (ACH) is a toxic substance present in cassava roots (Manihot esculenta Crantz) which results from enzymatic hydrolysis of linamarin. Long-term consumption is associated with 2 neurological disorders: konzo and tropical ataxic neuropathy. Previous studies have evaluated behavioural alterations linked to ACH consumption, but the toxic effects of this substance on physiological processes remain unknown. METHOD: 32 male Wistar rats were assigned to 4 experimental groups (n=8 per group): a vehicle group (0...
March 16, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28293314/clinical-spectrum-of-cerebral-palsy-and-associated-disability-in-south-egypt-a-local-survey-study
#5
Osama Abas, Faten Abdelaziem, Ayman Kilany
BACKGROUND: Cerebral palsy is the most common cause of motor disability in children with a prevalence of 2-10/1,000 live births in the developing areas. AIM: The epidemiology, clinical picture, and associated comorbidities in CP have been extensively studied in high-resource countries, but in low-resource areas, including Africa, those studies are still lacking. METHODS: Cerebral palsy cases were prospectively recruited from every physiotherapy centre in Bani-Mazar city, Egypt, in a cross-sectional study from May 2015 to November 2015...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28265153/comparison-of-differences-in-respiratory-function-and-pressure-as-a-predominant-abnormal-movement-of-children-with-cerebral-palsy
#6
Hae-Yeon Kwon
[Purpose] The purpose of this study was to determine differences in respiratory function and pressure among three groups of children with cerebral palsy as a predominant abnormal movement which included spastic type, dyskinetic type, and ataxic type. [Subjects and Methods] Forty-three children with cerebral palsy of 5-13 years of age in I-III levels according to the Gross Motor Function Classification System, the study subjects were divided by stratified random sampling into three groups of spastic type, dyskinetic type, and ataxic type...
February 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28259232/guillain-barr%C3%A3-syndrome
#7
REVIEW
Eelco F M Wijdicks, Christopher J Klein
Guillain-Barré syndrome is an acute inflammatory immune-mediated polyradiculoneuropathy presenting typically with tingling, progressive weakness, and pain. Variants and formes frustes may complicate recognition. The best known variant is the sensory ataxic form of Miller Fisher syndrome, which also affects the oculomotor nerves and the brain stem. Divergent pathologic mechanisms lead to demyelinating, axonal, or mixed demyelinating-axonal damage. In the demyelinating form, yet to be identified antigens are inferred by complement activation, myelin destruction, and macrophage-activated cleanup...
March 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28254638/deliberately-light-interpersonal-contact-affects-the-control-of-head-stability-during-walking-in-children-and-adolescents-with-cerebral-palsy
#8
Katrin Hanna Schulleri, Frauke Burfeind, Beate Höß-Zenker, Éva Feketené Szabó, Nadine Herzig, Annick Ledebt, Leif Johannsen
OBJECTIVE: To evaluate the potential of deliberately light interpersonal touch (IPT) for reducing excessive head and trunk sway during self-paced walking in children and adolescents with cerebral palsy (CP). DESIGN: Quasi-experimental, proof-of-concept study with between-groups comparison. SETTING: Ambulant care facility, community center. PARTICIPANTS: 26 individuals with CP (spastic and ataxic; GMFCS I-III; mean=9...
February 27, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28237314/preventive-motor-training-but-not-progenitor-grafting-ameliorates-cerebellar-ataxia-and-deregulated-autophagy-in-tambaleante-mice
#9
Elisa Fucà, Michela Guglielmotto, Enrica Boda, Ferdinando Rossi, Ketty Leto, Annalisa Buffo
Treatment options for degenerative cerebellar ataxias are currently very limited. A large fraction of such disorders is represented by hereditary cerebellar ataxias, whose familiar transmission facilitates an early diagnosis and may possibly allow to start preventive treatments before the onset of the neurodegeneration and appearance of first symptoms. In spite of the heterogeneous aetiology, histological alterations of ataxias often include the primary degeneration of the cerebellar cortex caused by Purkinje cells (PCs) loss...
February 24, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28212620/clinical-manifestations-of-severe-enterovirus-71-infection-and-early-assessment-in-a-southern-china-population
#10
Si-da Yang, Pei-Qing Li, Yi-Min Li, Wei Li, Wen-Ying Lai, Cui-Ping Zhu, Jian-Ping Tao, Li Deng, Hong-Sheng Liu, Wen-Cheng Ma, Jia-Ming Lu, Yan Hong, Yu-Ting Liang, Jun Shen, Dan-Dan Hu, Yuan-Yuan Gao, Yi Zhou, Min-Xiong Situ, Yan-Ling Chen
BACKGROUND: Enterovirus 71 (EV-A71) shows a potential of rapid death, but the natural history of the infection is poorly known. This study aimed to examine the natural history of EV-A71 infection. METHODS: This was a prospective longitudinal observational study performed between January 1(st) and October 31(st), 2012, at three hospitals in Guangdong, China. Subjects with positive EV-A71 RNA laboratory test results were included. Disease progression was documented with MRI, autopsies, and follow-up...
February 17, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28195318/biallelic-loss-of-function-variants-in-dock3-cause-muscle-hypotonia-ataxia-and-intellectual-disability
#11
Katherine L Helbig, Cameron Mroske, Divya Moorthy, Samin A Sajan, Milen Velinov
DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization. Dock3 knockout mice exhibit motor deficiencies with abnormal ataxic gait and impaired learning. We report two siblings with biallelic loss-of-function variants in DOCK3. Diagnostic whole exome sequencing and chromosomal microarray were performed on a proband with severe intellectual disability, hypotonia, and ataxic gait...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28128427/-pilot-study-of-the-acoustic-values-of-the-vowels-in-spanish-as-indicators-of-the-severity-of-dysarthria
#12
J Delgado-Hernandez
INTRODUCTION: The acoustic analysis is a tool that provides objective data on changes of speech in dysarthria. AIM: To evaluate, in the ataxic dysarthria, the relationship between the vowel space area (VSA), the formant centralization ratio (FCR) and the mean of the primary distances with the speech intelligibility. SUBJECTS AND METHODS: A sample of fourteen Spanish speakers, ten with dysarthria and four controls, was used. The values of first and second formants in 140 vowels extracted of 140 words were analyzed...
February 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28102468/mutation-of-the-herc-1-ubiquitin-ligase-impairs-associative-learning-in-the-lateral-amygdala
#13
Eva Mª Pérez-Villegas, José V Negrete-Díaz, Mª Elena Porras-García, Rocío Ruiz, Angel M Carrión, Antonio Rodríguez-Moreno, José A Armengol
Tambaleante (tbl/tbl) is a mutant mouse that carries a spontaneous Gly483Glu substitution in the HERC1 (HECT domain and RCC1 domain) E3 ubiquitin ligase protein (HERC1). The tbl/tbl mutant suffers an ataxic syndrome given the almost complete loss of cerebellar Purkinje cells during adult life. More recent analyses have identified alterations at neuromuscular junctions in these mice, as well as in other neurons of the central nervous system, such as motor neurons in the spinal cord, or pyramidal neurons in the hippocampal CA3 region and the neocortex...
January 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28095027/severe-and-extensive-traumatic-axonal-injury-following-minor-and-indirect-head-trauma
#14
Sung Ho Jang, Han Do Lee
OBJECTIVES: This study reports on a patient with mild traumatic brain injury (TBI) who showed severe and extensive traumatic axonal injury (TAI) of various neural tracts following minor and indirect head trauma, which was demonstrated by diffusion tensor tractography (DTT). CASE DESCRIPTION: A 26-year-old female patient suffered from indirect head trauma resulting from flexion-hyperextension injury after being hit from behind by a slowly moving car. At the time of head trauma, she felt tingling sensation on her four extremities; however, she did not experience loss of consciousness...
2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#15
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28074148/apraxia-of-speech-and-cerebellar-mutism-syndrome-a-case-report
#16
E De Witte, I Wilssens, D De Surgeloose, G Dua, M Moens, J Verhoeven, M Manto, P Mariën
BACKGROUND: Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28054826/experience-with-fampridine-in-clinical-practice-analysis-of-a-possible-marker-of-clinical-response
#17
Miriam Álvarez Payero, Candelas Valeiras Muñoz, Susana Lion Vázquez, Guadalupe Piñeiro Corrales, Delicias Muñoz García, Luciana Midaglia
PURPOSE OF THE STUDY: Approximately 85% of patients with multiple sclerosis experience reduced mobility, which negatively affects quality of life. Fampridine is the first symptomatic treatment aimed at improving gait. We analyzed effectiveness and tolerance in clinical practice. We also sought a prevalent gait pattern in responders as a potential clinical response marker. MATERIAL AND METHODS: 6-month prospective study of fampridine in patients with multiple sclerosis...
January 5, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28043238/recurrent-ataxia-in-children-and-adolescents
#18
Michael S Salman, Samantha F Klassen, Janine L Johnston
BACKGROUND: Recurrent ataxia is encountered infrequently in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by several disorders. Our aims were to describe the epidemiology and clinical features in children with recurrent ataxia. MATERIALS AND METHODS: A retrospective review was undertaken in 185 children with chronic ataxia, who presented during 1991 to 2008. Several databases were searched to ensure optimum ascertainment...
January 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28042592/paroxysmal-nonepileptic-events-in-glut1-deficiency
#19
Joerg Klepper, Baerbel Leiendecker, Christin Eltze, Nicole Heussinger
View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events...
November 2016: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28032667/caffeine-alleviates-progressive-motor-deficits-in-a-transgenic-mouse-model-of-spinocerebellar-ataxia
#20
Nélio Gonçalves, Ana T Simões, Rui D Prediger, Hirokazu Hirai, Rodrigo A Cunha, Luís Pereira de Almeida
OBJECTIVE: Machado-Joseph disease (MJD) is a neurodegenerative spinocerebellar ataxia (SCA) associated with an expanded polyglutamine tract within ataxin-3 for which there is currently no available therapy. We previously showed that caffeine, a nonselective adenosine receptor antagonist, delays the appearance of striatal damage resulting from expression of full-length mutant ataxin-3. Here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in Purkinje cells...
December 29, 2016: Annals of Neurology
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