keyword
MENU ▼
Read by QxMD icon Read
search

ataxic

keyword
https://www.readbyqxmd.com/read/29149697/characteristics-of-motor-speech-phenotypes-in-multiple-sclerosis
#1
Jan Rusz, Barbora Benova, Hana Ruzickova, Michal Novotny, Tereza Tykalova, Jan Hlavnicka, Tomas Uher, Manuela Vaneckova, Michaela Andelova, Klara Novotna, Lucie Kadrnozkova, Dana Horakova
BACKGROUND: Motor speech disorders in multiple sclerosis (MS) are poorly understood and their quantitative, objective acoustic characterization remains limited. Additionally, little data regarding relationships between the severity of speech disorders and neurological involvement in MS, as well as the contribution of pyramidal and cerebellar functional systems on speech phenotypes, is available. METHODS: Speech data were acquired from 141 MS patients with Expanded Disability Status Scale (EDSS) ranging from 1 to 6...
November 8, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29099938/nyx-2925-is-a-novel-nmda-receptor-specific-spirocyclic-%C3%AE-lactam-that-modulates-synaptic-plasticity-processes-associated-with-learning-and-memory
#2
M Amin Khan, David R Houck, Amanda L Gross, Xiao-Lei Zhang, Cassia Cearley, Torsten M Madsen, Roger A Kroes, Patric K Stanton, Jeffrey Burgdorf, Joseph R Moskal
Background: N-methyl-D-aspartate receptors (NMDAR) are one member of a family of ionotropic glutamate receptors that play a pivotal role in synaptic plasticity processes associated with learning and have become attractive therapeutic targets for diseases such as depression, anxiety, schizophrenia, and neuropathic pain. NYX-2925 ((2S, 3R)-3-hydroxy-2-((R)-5-isobutyryl-1-oxo-2,5-diazaspiro[3.4]octan-2-yl)butanamide) is one member of a spiro--lactam-based chemical platform that mimics some of the dipyrrolidine structural features of rapastinel (formerly GLYX-13: threonine-proline-proline-threonine) and is distinct from known NMDAR agonists or antagonists such as D-cycloserine, ketamine, MK-801, kynurenic acid or ifenprodil...
November 1, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29090527/novel-pregnancy-triggered-episodes-of-capos-syndrome
#3
Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na(+) /K(+) ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States...
November 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29089158/cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome-canvas
#4
Masakatsu Taki, Takashi Nakamura, Hiraku Matsuura, Tatsuhisa Hasegawa, Hirofumi Sakaguchi, Kanako Morita, Ryotaro Ishii, Ikuko Mizuta, Takashi Kasai, Toshiki Mizuno, Shigeru Hirano
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a novel ataxic disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit. We report the first Japanese case of CANVAS. The patient is a 68-year-old Japanese male. He was referred to our university for further evaluation of progressive gait disturbance and ataxia. He exhibited horizontal gaze-evoked nystagmus and sensory deficit. Nerve conduction studies showed sensory neuronopathy...
October 28, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29075754/generalized-adaptation-to-dysarthric-speech
#5
Stephanie A Borrie, Kaitlin L Lansford, Tyson S Barrett
Purpose: Generalization of perceptual learning has received limited attention in listener adaptation studies with dysarthric speech. This study investigated whether adaptation to a talker with dysarthria could be predicted by the nature of the listener's prior familiarization experience, specifically similarity of perceptual features, and level of intelligibility. Method: Following an intelligibility pretest involving a talker with ataxic dysarthria, 160 listeners were familiarized with 1 of 7 talkers with dysarthria-who differed from the test talker in terms of perceptual similarity (same, similar, dissimilar) and level of intelligibility (low, mid, high)-or a talker with no neurological impairment (control)...
November 9, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/29064552/evaluation-of-the-spatial-arrangement-of-purkinje-cells-in-ataxic-rat-s-cerebellum-after-sertoli-cells-transplantation
#6
Rabieh Mohammadi, Mohammad Hassan Heidari, Yousef Sadeghi, Mohammad Amin Abdollahifar, Abbas Aghaei
BACKGROUND: Purkinje cells (PCs) pathology is important in cerebellar disorders like ataxia. The spatial arrangement of Purkinje cells after different treatments is not being studied extensively. Immunohistochemistry (IHC) analysis of cerebellum can give a proper tool for explaining the pathophysiology of PCs in ataxia. Here we stereologically analyzed the three-dimensional spatial arrangement of PCs in the cerebellum of rats after ataxia induction with 3-acetylpyridine (3-AP). METHODS: Ataxia was induced in Rats by intraperitoneal injection of 3-AP (65 mg/kg)...
October 24, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29058268/early-diagnosed-cerebrotendinous-xanthomatosis-patients-clinical-neuroradiological-characteristics-and-therapy-results-of-a-single-center-from-turkey
#7
Tanyel Zubarioglu, Ertugrul Kiykim, Gozde Yesil, Duhan Demircioglu, Mehmet Serif Cansever, Cengiz Yalcinkaya, Cigdem Aktuglu-Zeybek
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim of this study is to evaluate clinical, neuroradiological findings and therapy responses of pediatric CTX patients and raise awareness to early features of disease. Patients who were molecularly diagnosed as CTX before 18 years of age were included in study. Clinical, epidemiological, radiological and genotypic features of patients and chenodeoxycholic acid (CDCA) therapy responses were reviewed retrospectively...
October 22, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29034989/neurological-presentations-revealing-acquired-copper-deficiency-diagnosis-features-etiologies-and-evolution-in-seven-patients
#8
Aurélia Poujois, Nouzha Djebrani-Oussedik, Fabienne Ory-Magne, France Woimant
BACKGROUND: acquired copper deficiency (ACD) is a rare condition usually diagnosed from haematological changes. AIMS: characterize the diagnosis features and the evolution of patients with ACD revealed by neurological symptoms. METHODS: clinical, biological and MRI data were prospectively analysed at diagnosis and during follow-up under copper supplementation. RESULTS: seven patients were studied over a 5-year period...
October 16, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28971049/korean-database-of-cerebral-palsy-a-report-on-characteristics-of-cerebral-palsy-in-south-korea
#9
Shin-Young Yim, Chung-Yong Yang, Joo Hyun Park, Min Young Kim, Yong-Beom Shin, Eun-Young Kang, Zee-Ihn Lee, Bum-Sun Kwon, Ji Chan Chang, Seong Woo Kim, Myeong-Ok Kim, Jeong-Yi Kwon, Han-Young Jung, In Young Sung
OBJECTIVE: To introduce the Korean Database of Cerebral Palsy (KDCP) and to provide the first report on characteristics of subjects with cerebral palsy (CP). METHODS: The KDCP is a nationwide database of subjects with CP, which includes a total of 773 subjects. Characteristics such as demography, birth history, onset and type of CP, brain magnetic resonance imaging (MRI) findings, functional ability and accompanying impairments, were extracted and analyzed. RESULTS: Preterm delivery and low birth weight were found in 59...
August 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28966585/combination-treatment-of-low-frequency-repetitive-transcranial-magnetic-stimulation-and-intensive-occupational-therapy-for-ataxic-hemiparesis-due-to-thalamic-hemorrhage
#10
Naoki Urushidani, Takatsugu Okamoto, Shoji Kinoshita, Shingo Yamane, Hiroaki Tamashiro, Wataru Kakuda, Masahiro Abo
BACKGROUND: Both low-frequency repetitive transcranial magnetic stimulation (LF-rTMS) and intensive occupational therapy (OT) are clinically beneficial for post-stroke patients with upper-limb hemiparesis. However, the usefulness of LF-rTMS and intensive OT for ataxic hemiparesis (AH) is unknown. METHODS: The study subjects included 7 patients with AH. All patients had ataxia and mild hemiparesis without a sensory disturbance that was due to thalamic hemorrhage...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28950889/urinary-bowel-and-sexual-symptoms-in-a-cohort-of-patients-with-friedreich-s-ataxia
#11
Meher Lad, Michael H Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti
BACKGROUND: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA. METHODS: Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living...
September 26, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28945130/pharmacokinetics-and-selected-pharmacodynamics-of-trazodone-following-intravenous-and-oral-administration-to-horses-undergoing-fitness-training
#12
Heather K Knych, Khursheed R Mama, Eugene P Steffey, Scott D Stanley, Philip H Kass
OBJECTIVE To measure concentrations of trazodone and its major metabolite in plasma and urine after administration to healthy horses and concurrently assess selected physiologic and behavioral effects of the drug. ANIMALS 11 Thoroughbred horses enrolled in a fitness training program. PROCEDURES In a pilot investigation, 4 horses received trazodone IV (n = 2) or orally (2) to select a dose for the full study; 1 horse received a vehicle control treatment IV. For the full study, trazodone was initially administered IV (1...
October 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28917165/cerebellar-induced-differential-polyglot-aphasia-a-neurolinguistic-and-fmri-study
#13
Peter Mariën, Kim van Dun, Johanna Van Dormael, Dorien Vandenborre, Stefanie Keulen, Mario Manto, Jo Verhoeven, Jubin Abutalebi
Research has shown that linguistic functions in the bilingual brain are subserved by similar neural circuits as in monolinguals, but with extra-activity associated with cognitive and attentional control. Although a role for the right cerebellum in multilingual language processing has recently been acknowledged, a potential role of the left cerebellum remains largely unexplored. This paper reports the clinical and fMRI findings in a strongly right-handed (late) multilingual patient who developed differential polyglot aphasia, ataxic dysarthria and a selective decrease in executive function due to an ischemic stroke in the left cerebellum...
September 13, 2017: Brain and Language
https://www.readbyqxmd.com/read/28904462/clinical-spectrum-therapeutic-outcomes-and-prognostic-predictors-in-sjogren-s-syndrome-associated-neuropathy
#14
Ajith Sivadasan, Karthik Muthusamy, Bimal Patel, Rohit Ninan Benjamin, A T Prabhakar, Vivek Mathew, Sanjith Aaron, Mathew Alexander
OBJECTIVES: There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. METHODS: The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#15
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28863007/intraoperative-neurophysiologic-monitoring-for-prediction-of-postoperative-neurological-improvement-in-a-child-with-chiari-type-i-malformation
#16
Yukari Kawasaki, Susumu Uchida, Kouhei Onishi, Masako Toyokuni, Kazuo Okanari, Minoru Fujiki
INTRODUCTION: Although many surgical treatment strategies for Chiari malformation type I (CM-I) have been reported, the most appropriate surgical technique remains controversial. It is wholly ascribable to the complicacy of pathological condition in CM-I. Recently, intraoperative neurophysiologic monitoring (INM) is becoming prevalent in spinal surgery. Indeed, motor-evoked potentials (MEPs) monitoring and somatosensory-evoked potentials (SSEPs) monitoring are standard tools to minimize the risk of neurologic injury and postoperative deficits...
October 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28856173/a-case-of-brown-vialetto-van-laere-syndrome-due-to-a-novel-mutation-in-slc52a3-gene-clinical-course-and-response-to-riboflavin
#17
Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, Chun M Tong, Xue Ming
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28844644/role-of-corticotropin-releasing-factor-in-cerebellar-motor-control-and-ataxia
#18
Yi Wang, Zhang-Peng Chen, Qian-Xing Zhuang, Xiao-Yang Zhang, Hong-Zhao Li, Jian-Jun Wang, Jing-Ning Zhu
Cerebellar ataxia, characterized by motor incoordination, postural instability, and gait abnormality [1-3], greatly affects daily activities and quality of life. Although accumulating genetic and non-genetic etiological factors have been revealed [4-7], effective therapies for cerebellar ataxia are still lacking. Intriguingly, corticotropin-releasing factor (CRF), a peptide hormone and neurotransmitter [8, 9], is considered a putative neurotransmitter in the olivo-cerebellar system [10-14]. Notably, decreased levels of CRF in the inferior olive (IO), the sole origin of cerebellar climbing fibers, have been reported in patients with spinocerebellar degeneration or olivopontocerebellar atrophy [15, 16], yet little is known about the exact role of CRF in cerebellar motor coordination and ataxia...
September 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28835827/epilepsy-ataxia-sensorineural-deafness-tubulopathy-syndrome-in-a-european-child-with-kcnj10-mutations-a-case-report
#19
Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. CASE REPORT: A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28830896/patient-with-niemann-pick-disease-type-c-over-20-years-follow-up
#20
Kazuo Abe, Norio Sakai
We report a 37-year-old woman with Niemann-Pick disease type C (NPC) 1. At the age of 8 years, she presented slow running followed by both fingers dystonia at the age of 10 years. At the age of 16 years, she developed declined scholastic achievement. On her first visit at the age of 17 years, she showed dystonia, ataxic gait and vertical supranuclear gaze palsy. We suspected it was NPC. She presented atrophies in the frontal lobes, brainstem and cerebellum in a brain MRI. She presented hepatomegalies and splenomegalies in an abdominal CT...
August 22, 2017: BMJ Case Reports
keyword
keyword
92719
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"