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https://www.readbyqxmd.com/read/28212620/clinical-manifestations-of-severe-enterovirus-71-infection-and-early-assessment-in-a-southern-china-population
#1
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
#2
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
#3
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
#4
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
#5
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...
January 17, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#6
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
#7
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
#8
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
#9
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
#10
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
#11
Nélio Gonçalves, Ana T Simões, Rui S 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 non-selective 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
https://www.readbyqxmd.com/read/27960164/clinical-stroke-syndromes
#12
Jong S Kim, Louis R Caplan
The main mechanism of stroke in patients who have extracranial atherosclerosis is artery to artery embolism, occasionally associated with hemodynamic disturbances. Although these mechanisms are also important in patients with intracranial atherosclerosis, branch occlusion and in-situ thrombotic occlusion play a relatively more important role in these patients. Accordingly, clinical stroke syndromes differ between extracranial atherosclerosis and intracranial atherosclerosis. In anterior circulation, middle cerebral artery atherosclerosis frequently produces subcortical infarction by way of branch occlusion...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27957507/antibodies-to-inositol-1-4-5-triphosphate-receptor-1-in-patients-with-cerebellar-disease
#13
Penelope Fouka, Harry Alexopoulos, Ioanna Chatzi, Skarlatos G Dedos, Martina Samiotaki, George Panayotou, Panagiotis Politis, Athanasios Tzioufas, Marinos C Dalakas
OBJECTIVE: To describe newly identified autoantibodies associated with cerebellar disorders. DESIGN/METHODS: We first screened the sera of 15 patients with cerebellar ataxia, without any known associated autoantibodies, with immunocytochemistry on mouse brain. After characterization and validation of a newly identified antibody, 85 additional patients with suspected autoimmune cerebellar disease were screened using a cell-based assay. RESULTS: Immunoglobulin G from one of the first 15 patients demonstrated a distinct staining pattern on Purkinje neurons...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27943639/genetic-prion-disease-experience-of-a-rapidly-progressive-dementia-center-in-the-united-states-and-a-review-of-the-literature
#14
REVIEW
Leonel T Takada, Mee-Ohk Kim, Ross W Cleveland, Katherine Wong, Sven A Forner, Ignacio Illán Gala, Jamie C Fong, Michael D Geschwind
Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27938495/efficacy-of-two-delivery-routes-for-transplanting-human-neural-progenitor-cells-npc-into-the-ispastic-i-han-wistar-rat-a-model-of-ataxia
#15
Toni Uhlendorf, Ruslan Nuryyev, Alex Kopyov, Jessica Ochoa, Shahab Younesi, Randy Cohen, Oleg Kopyov
<p>An emerging avenue for recalcitrant neurodegenerative disease treatment is neural progenitor cell (NPC) transplantation. In this study, we investigated the effectiveness of two different delivery routes of human-derived NPC inoculation: injection into the common carotid artery or unilateral stereotactic implantation into the degenerating cerebellum and hippocampus of spastic Han-Wistar (sHW) rats, a model of ataxia.</p><p>At 30 days of age, sHW mutants were implanted with osmotic pumps pre-loaded with cyclosporine...
7, 2016: Cell Transplantation
https://www.readbyqxmd.com/read/27933953/synthesis-and-characterization-of-a-novel-%C3%AE-aminobutyric-acid-type-a-gabaa-receptor-ligand-that-combines-outstanding-metabolic-stability-pharmacokinetics-and-anxiolytic-efficacy
#16
Michael M Poe, Kashi Reddy Methuku, Guanguan Li, Ashwini R Verma, Kelly A Teske, Douglas C Stafford, Leggy A Arnold, Jeffrey W Cramer, Timothy M Jones, Rok Cerne, Michael J Krambis, Jeffrey M Witkin, Enrique Jambrina, Sabah Rehman, Margot Ernst, James M Cook, Jeffrey M Schkeryantz
1,4-Benzodiazepines are used in the treatment of anxiety disorders but have limited long-term use due to adverse effects. HZ-166 (2) has been shown to have anxiolytic-like effects with reduced sedative/ataxic liabilities. A 1,3-oxazole KRM-II-81 (9) was discovered from a series of six bioisosteres with significantly improved pharmacokinetic and pharmacodynamic properties as compared to 2. Oxazole 9 was further characterized and exhibited improved anxiolytic-like effects in a mouse marble burying assay and a rat Vogel conflict test...
December 8, 2016: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27908060/individual-differences-in-the-perception-of-regional-nonnative-and-disordered-speech-varieties
#17
Tessa Bent, Melissa Baese-Berk, Stephanie A Borrie, Megan McKee
Speech perception abilities vary substantially across listeners, particularly in adverse conditions including those stemming from environmental degradation (e.g., noise) or from talker-related challenges (e.g., nonnative or disordered speech). This study examined adult listeners' recognition of words in phrases produced by six talkers representing three speech varieties: a nonnative accent (Spanish-accented English), a regional dialect (Irish English), and a disordered variety (ataxic dysarthria). Semantically anomalous phrases from these talkers were presented in a transcription task and intelligibility scores, percent words correct, were compared across the three speech varieties...
November 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27899786/-a-case-of-an-abdominal-desmoplastic-small-round-cell-tumor-with-metastasis-in-the-medulla-oblongata
#18
Ayaka Azami, Yoshinao Takano, Michitaka Honda, Yukitoshi Todate, Takeshi Tada, Mitsuru Waragai, Daizo Fukushima, Nobuyasu Suzuki, Atai Sato, Tsuyoshi Abe, Yasushi Teranishi, Hideo Sakuma
A desmoplastic small round cell tumor(DSRCT)is a very rare malignant tumor that mainly occurs in the intra-abdominal cavity in young adults.This neoplasm has an extremely poor prognosis, with a clinical course characterized by rapid progression and metastasis.We present a 31-year-old man who presented with chief complaints of dysphagia, ataxic gait, and hoarseness.He first underwent surgical resection of a tumor in the medulla oblongata; however, the lesion was suspected to be a metastatic neoplasm.Following a thorough medical examination, the patient was diagnosed with retroperitoneal DSRCT with multiple metastatic lesions...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#19
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27876002/sporadic-creutzfeldt-jakob-disease-with-unusual-initial-presentation-as-posterior-reversible-encephalopathy-syndrome-a-case-report
#20
Edgaras Dirzius, Renata Balnyte, Vesta Steibliene, Rymante Gleizniene, Inga Gudinaviciene, Andrius Radziunas, Kestutis Petrikonis
BACKGROUND: Creutzfeldt - Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative prion disease. MRI findings are included in diagnostic criteria for probable CJD, giving a sensitivity and specificity more than 90%, but the atypical radiological presentations in the early stage of the disease could cause the diagnostic difficulties. CJD can be definitively diagnosed by histopathological confirmation, brain biopsy or at autopsy. CASE PRESENTATION: We present a case of 53-year-old woman with a history of a rapidly progressive dementia with symptoms of visual impairment, increased extrapyramidal type muscle tonus, stereotypical movements and ataxic gait resulting in the patient's death after13 months...
November 22, 2016: BMC Neurology
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