keyword
MENU ▼
Read by QxMD icon Read
search

ataxic

keyword
https://www.readbyqxmd.com/read/29774624/what-does-it-take-to-stress-a-word-digital-manipulation-of-stress-markers-in-ataxic-dysarthria
#1
Anja Lowit, Tolulope Ijitona, Anja Kuschmann, Stephen Corson, John Soraghan
BACKGROUND: Stress production is important for effective communication, but this skill is frequently impaired in people with motor speech disorders. The literature reports successful treatment of these deficits in this population, thus highlighting the therapeutic potential of this area. However, no specific guidance is currently available to clinicians about whether any of the stress markers are more effective than others, to what degree they have to be manipulated, and whether strategies need to differ according to the underlying symptoms...
May 18, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29774619/different-types-of-multiple-synapse-boutons-in-the-cerebellar-cortex-between-physically-enriched-and-ataxic-mutant-mice
#2
Hyun-Wook Kim, Seunghak Oh, Seung Hwan Lee, Sanghoon Lee, Ji-Eun Na, Kea Joo Lee, Im Joo Rhyu
Experience-dependent synapse remodeling is associated with information storage in the nervous system. Neuronal synapses show alteration in various neurological and cognitive disorders in their structure and function. At the ultrastructural level, parallel fiber boutons contacting multiple spines of Purkinje cells in the cerebellar cortex are commonly observed in physiologically enriched animals as well as pathological ataxic mutants. However, the dendritic origin of those spines on parallel fiber multiple-synapse boutons (MSBs) has been poorly understood...
May 18, 2018: Microscopy Research and Technique
https://www.readbyqxmd.com/read/29760657/purkinje-cell-signaling-deficits-in-animal-models-of-ataxia
#3
REVIEW
Eriola Hoxha, Ilaria Balbo, Maria Concetta Miniaci, Filippo Tempia
Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia by altering the firing rate of PCs or their firing pattern. However, the relationship between specific firing alterations and motor symptoms is not yet clear, and in some cases PC dysfunction precedes the onset of ataxic signs. Moreover, a great variety of ionic and synaptic mechanisms can affect PC signaling, resulting in different features of motor dysfunction...
2018: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29732603/sox2-conditional-mutation-in-mouse-causes-ataxic-symptoms-cerebellar-vermis-hypoplasia-and-postnatal-defects-of-bergmann-glia
#4
Valentina Cerrato, Sara Mercurio, Ketty Leto, Elisa Fucà, Eriola Hoxha, Sara Bottes, Miriam Pagin, Marco Milanese, Chew-Yee Ngan, Giulia Concina, Sergio Ottolenghi, Chia-Lin Wei, Giambattista Bonanno, Giulio Pavesi, Filippo Tempia, Annalisa Buffo, Silvia K Nicolis
Sox2 is a transcription factor active in the nervous system, within different cell types, ranging from radial glia neural stem cells to a few specific types of differentiated glia and neurons. Mutations in the human SOX2 transcription factor gene cause various central nervous system (CNS) abnormalities, involving hippocampus and eye defects, as well as ataxia. Conditional Sox2 mutation in mouse, with different Cre transgenes, previously recapitulated different essential features of the disease, such as hippocampus and eye defects...
May 6, 2018: Glia
https://www.readbyqxmd.com/read/29720794/evaluation-of-various-movement-disorders-in-patients-of-genetically-proven-spinocerebellar-ataxia-a-study-from-a-tertiary-care-center-in-northern-india
#5
Divya M Radhakrishnan, Vinay Goyal, Achal Kumar Srivastava, Garima Shukla, Madhuri Behari
Background: Movement disorders are one of the prominent nonataxic symptoms in patients of spinocerebellar ataxia (SCA). The type of movement disorder may provide clinical clue to the type of SCA. Objective: The objective of this study is to evaluate various movement disorders in patients of genetically proven SCAs and to establish a probable clinico-genetic correlation. Methods: Ninety-Five patients of genetically proven SCAs were assessed for the presence of various movement disorders...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29713949/resveratrol-protects-purkinje-neurons-and-restores-muscle-activity-in-rat-model-of-cerebellar-ataxia
#6
Zeynab Ghorbani, Reza Mastery Farahani, Abbas Aliaghaei, Fariba Khodagholi, Gholam Houssein Meftahi, Samira Danyali, Mohammad Amin Abdollahifar, Mahtab Daftari, Mahdi Eskandarian Boroujeni, Yousef Sadeghi
Cerebellar ataxia (CA) is regarded as a miscellaneous cluster of brain disorders related to the cerebellum. Resveratrol is a naturally occurring polyphenolic compound. Previous reports suggest that resveratrol confers neuroprotection in various animal models of brain damage. Indeed, we considered it invaluable to investigate whether a treatment with resveratrol has a therapeutic role against CA induced by 3-acetylpyridine (3-AP) in rats. In addition, no investigation has examined neuroprotective effect of resveratrol in rat model of CA...
May 1, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29698477/characteristics-of-ataxic-gait-in-familial-dysautonomia-patients
#7
Sigal Portnoy, Channa Maayan, Jeanna Tsenter, Yonah Ofran, Vladimir Goldman, Nurit Hiller, Naama Karniel, Isabella Schwartz
INTRODUCTION AND OBJECTIVES: Progressive ataxic gait is a common symptom in individuals with Familial Dysautonomia (FD). At least 50% of adults with FD require assistance with walking. Our aims were to describe the medical condition of individuals with FD (ii) compare their gait characteristics to healthy individuals, and (iii) assess correlations between gait measures, presence of unstable gait pattern and frequency of falls. METHODS: Twelve subjects with FD (7 males, age 25...
2018: PloS One
https://www.readbyqxmd.com/read/29680266/physiological-movement-disorder-like-features-during-typical-motor-development
#8
M J Kuiper, R Brandsma, L Vrijenhoek, M A J Tijssen, H Burger, B Dan, D A Sival
AIM: To compare physiological age-relatedness between dyskinesia (dystonia/choreoathetosis), dystonia and ataxia rating scale scores in healthy children. METHOD: Three movement disorders specialists quantified dyskinetic-like features in healthy children (n = 52; 4-16 years) using the Dyskinesia Impairment Scale (DIS = DIS-choreoathetosis (DIS-C) + DIS-dystonia (DIS-D)). We compared the age-related regression coefficients of the DIS with data processed from previous studies on dystonia and ataxia rating scales (Burke-Fahn-Marsden Movement and Disability Scales (BFMMS and BFMDS) and Scale for Assessment and Rating of Ataxia (SARA), International Cooperative Ataxia Rating Scale (ICARS) and Brief Ataxia Rating Scale (BARS))...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29670152/improvement-of-cerebellar-ataxic-gait-by-injecting-cbln1-into-the-cerebellum-of-cbln1-null-mice
#9
Eri Takeuchi, Aya Ito-Ishida, Michisuke Yuzaki, Dai Yanagihara
Patients and rodents with cerebellar damage display ataxic gaits characterized by impaired coordination of limb movements. Here, gait ataxia in mice with a null mutation of the gene for the cerebellin 1 precursor protein (cbln1-null mice) was investigated by kinematic analysis of hindlimb movements during locomotion. The Cbln1 protein is predominately produced and secreted from cerebellar granule cells. The cerebellum of cbln1-null mice is characterized by an 80% reduction in the number of parallel fiber-Purkinje cell synapses compared with wild-type mice...
April 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29665225/objective-and-quantitative-equilibriometric-evaluation-of-individual-locomotor-behaviour-in-schizophrenia-translational-and-clinical-implications
#10
Svetlozar Haralanov, Evelina Haralanova, Emil Milushev, Diana Shkodrova, Claus-Frenz Claussen
Psychiatry is the only medical specialty that lacks clinically applicable biomarkers for objective evaluation of the existing pathology at a single-patient level. On the basis of an original translational equilibriometric method for evaluation of movement patterns, we have introduced in the everyday clinical practice of psychiatry an easy-to-perform computerized objective quantification of the individual locomotor behaviour during execution of the Unterberger stepping test. For the last 20 years, we have gradually collected a large database of more than 1000 schizophrenic patients, their relatives, and matched psychiatric, neurological, and healthy controls via cross-sectional and longitudinal investigations...
April 17, 2018: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/29664460/a-novel-variant-in-atm-gene-causes-ataxia-telangiectasia-revealed-by-whole-exome-sequencing
#11
Noufa A Alonazi, Khalid J Hundallah, Amal M Al Hashem, Sarar Mohamed
Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. Here, we report a novel stop codon variant, c.5944 C>T (p.Gln1982*), revealed by whole-exome sequencing in a 9-year old boy. He presented with recurrent upper respiratory tract infections, failure to thrive, developmental delay, ataxic gait, and bulbar telangiectasia...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29661123/pathological-and-microbiological-study-of-mortality-in-a-captive-breeding-colony-of-the-endangered-lord-howe-island-stick-insect-dryococelus-australis
#12
Christine Bayley, Christina Cheng, Michael Lynch
The authors describe pathological and microbiological features of mortalities in a captive breeding colony of Lord Howe Island stick insects ( Dryococelus australis) over a period of 18 months. There were 2 peaks of mortality in this period. In the first, insects presented dead with minimal premonitory signs of illness. In the second, affected insects were ataxic with contracted limbs and inability to climb or right themselves. Gross lesions were uncommon but included pigmented plaques on the gut and cloacal prolapse...
January 1, 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29657732/two-cases-of-spontaneous-cervical-epidural-hematoma-without-back-or-neck-pain-in-elderly-japanese-men
#13
Takashi Hongo, Kenichi Iseda, Midori Tsuchiya, Mototaka Inaba, Satoshi Nozaki, Kenji Takahashi, Masaaki Nakajima, Toshifumi Fujiwara
Cases: Spontaneous spinal epidural hematoma (SSEH) is an uncommon disease. Most SSEH cases involve back and/or neck pain. We report the cases of two men who experienced SSEH with dysstasia but without back or neck pain. Outcomes: This study presents two cases involving elderly Japanese men who visited an emergency department because of sudden dysstasia without back or neck pain. The results of the neurological examinations revealed ataxic gait. Cervical spinal epidural hematomas were observed by computed tomography and magnetic resonance imaging...
April 2018: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29656859/dual-molecular-effects-of-dominant-rora-mutations-cause-two-variants-of-syndromic-intellectual-disability-with-either-autism-or-cerebellar-ataxia
#14
Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N Khan, Hannah Stamberger, Kirsty McWalter, Megan T Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon Sattler, Irman Forghani, Isabelle Thiffault, Christine M Freitag, Deborah Sara Barbouth, Maxime Cadieux-Dion, Rebecca Willaert, Maria J Guillen Sacoto, Nicole P Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Hays Karlowicz, Jean-François Deleuze, Monica H Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al-Gazali, Aisha Mohamed Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan J Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, Michel Koenig, Erica E Davis, Laurent Pasquier, Sébastien Küry
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29644085/protein-molecular-modeling-shows-residue-t599-is-critical-to-wild-type-function-of-polg-and-description-of-a-novel-variant-associated-with-the-sando-phenotype
#15
John E Richter, Hector G Robles, Elizabeth Mauricio, Ahmed Mohammad, Paldeep S Atwal, Thomas R Caulfield
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma ( POLG ). We modeled a novel POLG variant, T599P, that causes the SANDO phenotype and another variant at the same residue, p.T599E, to observe their effect on protein function and confirm the pathogenicity of T599P. Through neoteric molecular modeling techniques, we show that changes at the T599 residue position introduce extra rigidity into the surrounding helix-loop-helix, which places steric pressure on nearby nucleotides...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29623859/non-invasive-cerebellar-stimulation-in-cerebellar-disorders
#16
Roberta Ferrucci, Ciara Di Nuzzo, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori
Non-invasive brain stimulation (NIBS) might be a valuable therapeutic approach for neurological diseases by modifying the cortical activity in the human brain and promoting neural plasticity. Currently, researchers are exploring the use of NIBS on the cerebellum to promote functional neural changes in cerebellar disorders. In the presence of cerebellar dysfunction, several movement disorders, such as kinetic tremor, ataxia of gait, limb dysmetria and oculomotor deficits, become progressively more disabling in daily life, and no pharmacological treatments currently exist...
April 3, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29618507/further-delineation-of-the-mecp2-duplication-syndrome-phenotype-in-59-french-male-patients-with-a-particular-focus-on-morphological-and-neurological-features
#17
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication...
April 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29592984/a-rare-cause-of-postpartum-headache
#18
Nayantara Bijral, Imran Qureshi, Aisha Hameed
Postpartum women can develop headache, and their assessment requires a thorough and multidisciplinary approach. If the headache is unresponsive to treatment and accompanied by neurological deficit, neuroimaging needs to be undertaken to rule out other life-threatening causes.1 We present a case of 35-year-old woman with pre-eclampsia and diet-controlled gestational diabetes mellitus, who had normal vaginal delivery at 40 weeks. She had an epidural analgesia for pain relief during labour, but had inadvertent dural puncture during the procedure and developed headache 24 hours after delivery...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29577254/prevalence-and-risk-factors-for-medical-events-following-exercise-at-australian-greyhound-race-meetings
#19
S L Karamatic, G A Anderson, B W Parry, R F Slocombe, C S Mansfield
AIM: A prospective, observational study to determine the prevalence of post-exercise conditions at Australian Greyhound race meetings and to assess association with race performance and other environmental, race- and dog-related factors was undertaken. METHODS: A total of 4020 starters were observed (2813 Greyhounds, 1009 trainers, 536 races, 52 race meets, 48 race dates and 11 race tracks) following a race. The presence of diaphragmatic flutter (DF), ataxia, seizure, collapse or sudden death was recorded...
April 2018: Australian Veterinary Journal
https://www.readbyqxmd.com/read/29576321/an-intracellular-allosteric-modulator-binding-pocket-in-sk2-ion-channels-is-shared-by-multiple-chemotypes
#20
Lily T-Y Cho, Aristos J Alexandrou, Rubben Torella, John Knafels, Jake Hobbs, Toni Taylor, Alex Loucif, Agnieszka Konopacka, Sigourney Bell, Edward B Stevens, Jay Pandit, Reto Horst, Jane M Withka, David C Pryde, Shenping Liu, Gareth T Young
Small conductance potassium (SK) ion channels define neuronal firing rates by conducting the after-hyperpolarization current. They are key targets in developing therapies where neuronal firing rates are dysfunctional, such as in epilepsy, Parkinson's, and amyotrophic lateral sclerosis (ALS). Here, we characterize a binding pocket situated at the intracellular interface of SK2 and calmodulin, which we show to be shared by multiple small-molecule chemotypes. Crystallization of this complex revealed that riluzole (approved for ALS) and an analog of the anti-ataxic agent (4-chloro-phenyl)-[2-(3,5-dimethyl-pyrazol-1-yl)-pyrimidin-4-yl]-amine (CyPPA) bind to and allosterically modulate via this site...
March 19, 2018: Structure
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"