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https://www.readbyqxmd.com/read/29341299/autonomous-purkinje-cell-axonal-dystrophy-causes-ataxia-in-peroxisomal-multifunctional-protein-2-deficiency
#1
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29338380/transplantation-of-human-neural-progenitor-cells-reveals-structural-and-functional-improvements-in-the-spastic-han-wistar-rat-model-of-ataxia
#2
Ruslan L Nuryyev, Toni L Uhlendorf, Wesley Tierney, Suren Zatikyan, Oleg Kopyov, Alex Kopyov, Jessica Ochoa, William Van Trigt, Cindy S Malone, Randy W Cohen
The use of regenerative medicine to treat nervous system disorders like ataxia has been proposed to either replace or support degenerating neurons. In this study, we assessed the ability of human neural progenitor cells (hNPCs) to repair and restore the function of dying neurons within the spastic Han-Wistar rat (sHW), a model of ataxia. The sHW rat suffers from neurodegeneration of specific neurons, including cerebellar Purkinje cells and hippocampal CA3 pyramidal cells leading to the observed symptoms of forelimb tremor, hind-leg rigidity, gait abnormality, motor incoordination, and a shortened life span...
November 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29321433/a-case-of-cv2-crmp5-antibody-related-paraneoplastic-optic-neuropathy-associated-with-small-cell-lung-cancer
#3
Masanori Nakajima, Ayumi Uchibori, Yuki Ogawa, Tai Miyazaki, Yaeko Ichikawa, Kimihiko Kaneko, Toshiyuki Takahashi, Ichiro Nakashima, Hirokazu Shiraishi, Masakatsu Motomura, Atsuro Chiba
A 61-year-old woman who had smoked for 40 years developed subacute dizziness, ataxic gait, opsoclonus, and right visual impairment. She had right optic disc swelling and optic nerve gadolinium enhancement on magnetic resonance imaging. She had small-cell lung cancer (SCLC), with CV2/collapsin response mediator protein (CRMP) 5 and HuD antibodies in her serum and cerebrospinal fluid. She was diagnosed with paraneoplastic optic neuropathy (PON) accompanied by paraneoplastic opsoclonus-ataxia syndrome. Her symptoms improved after removing the SCLC...
January 11, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29319606/disruption-of-nnos-nos1ap-protein-protein-interactions-suppresses-neuropathic-pain-in-mice
#4
Wan-Hung Lee, Li-Li Li, Aarti Chawla, Andy Hudmon, Yvonne Y Lai, Michael J Courtney, Andrea G Hohmann
Elevated N-methyl-D-aspartate receptor (NMDAR) activity is linked to central sensitization and chronic pain. However, NMDAR antagonists display limited therapeutic potential due to their adverse side effects. Novel approaches targeting the NR2B-PSD95-nNOS complex to disrupt signaling pathways downstream of NMDARs show efficacy in preclinical pain models. Here, we evaluated the involvement of interactions between neuronal nitric oxide synthase (nNOS) and the nitric oxide synthase 1 adaptor protein (NOS1AP) in pronociceptive signaling and neuropathic pain...
January 9, 2018: Pain
https://www.readbyqxmd.com/read/29316572/improvement-of-respiratory-depression-in-a-patient-with-primary-medullary-hemorrhage-following-removal-of-hematoma-in-the-half-sitting-position
#5
Shinya Ichimura, Helmut Bertalanffy, Masato Nakaya, Yoichi Mochizuki, Raita Fukaya, Goroku Moriwaki, Masahito Fukuchi, Koji Fujii
Primary medullary hemorrhage is a rare event that may result in ataxic respiration. Although it remains controversial whether primary medullary hemorrhage should be managed conservatively or surgically, recent advancements in neuroimaging and microsurgical techniques have shown promise for improving outcomes and prognosis following surgery. The present report discusses the case of a 70-year-old woman admitted to our institution due to sudden-onset nausea and vomiting. The patient underwent surgical removal of a right medullary hematoma for the treatment of daytime respiratory depression and nocturnal apnea while in the half-sitting position...
January 9, 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/29249765/acute-cerebellar-ataxia-induced-by-nivolumab
#6
Reina Kawamura, Eiichiro Nagata, Masako Mukai, Yoichi Ohnuki, Tomohiko Matsuzaki, Kana Ohiwa, Tomoki Nakagawa, Mitsutomo Kohno, Ryota Masuda, Masayuki Iwazaki, Shunya Takizawa
A 54-year-old woman with adenocarcinoma of the lung and lymph node metastasis experienced nystagmus and cerebellar ataxia 2 weeks after initiating nivolumab therapy. An evaluation for several autoimmune-related antibodies and paraneoplastic syndrome yielded negative results. We eventually diagnosed the patient with nivolumab-induced acute cerebellar ataxia, after excluding other potential conditions. Her ataxic gait and nystagmus resolved shortly after intravenous steroid pulse therapy followed by the administration of decreasing doses of oral steroids...
2017: Internal Medicine
https://www.readbyqxmd.com/read/29249373/idiopathic-cerebellar-ataxia-idca-diagnostic-criteria-and-clinical-analyses-of-63-japanese-patients
#7
Kunihiro Yoshida, Satoshi Kuwabara, Katsuya Nakamura, Ryuta Abe, Akira Matsushima, Minako Beppu, Yoshitaka Yamanaka, Yuji Takahashi, Hidenao Sasaki, Hidehiro Mizusawa
Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for CCA. Therefore, it is assumed that the category of CCA in the Japanese national registry include heterogeneous cerebellar ataxic disorders. To refine this category in more detail, we here used a clinical-based term, "idiopathic cerebellar ataxia (IDCA)", and proposed its diagnostic criteria...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29224725/ror%C3%AE-spinal-interneurons-gate-sensory-transmission-during-locomotion-to-secure-a-fluid-walking-gait
#8
Stephanie C Koch, Marta Garcia Del Barrio, Antoine Dalet, Graziana Gatto, Thomas Günther, Jingming Zhang, Barbara Seidler, Dieter Saur, Roland Schüle, Martyn Goulding
Animals depend on sensory feedback from mechanosensory afferents for the dynamic control of movement. This sensory feedback needs to be selectively modulated in a task- and context-dependent manner. Here, we show that inhibitory interneurons (INs) expressing the RORβ orphan nuclear receptor gate sensory feedback to the spinal motor system during walking and are required for the production of a fluid locomotor rhythm. Genetic manipulations that abrogate inhibitory RORβ IN function result in an ataxic gait characterized by exaggerated flexion movements and marked alterations to the step cycle...
December 5, 2017: Neuron
https://www.readbyqxmd.com/read/29220753/a-systematic-review-of-the-gait-characteristics-associated-with-cerebellar-ataxia
#9
REVIEW
Ellen Buckley, Claudia Mazzà, Alisdair McNeill
BACKGROUND: Cerebellar Ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that manifests as problems with balance and walking leading to considerable disability. There is increasing acceptance of gait analysis techniques to quantify subtle gait characteristics that are unmeasurable by current clinical methods This systematic review aims to identify the gait characteristics able to differentiate between Cerebellar Ataxia and healthy controls...
December 1, 2017: Gait & Posture
https://www.readbyqxmd.com/read/29212862/ataxia-with-oculomotor-apraxia-type-2-an-evolving-axonal-neuropathy
#10
Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlden
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich's ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years...
December 6, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29205794/biallelic-mutations-in-lars2-can-cause-perrault-syndrome-type-2-with-neurologic-symptoms
#11
Rika Kosaki, Reiko Horikawa, Eriko Fujii, Kenjiro Kosaki
Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). To date, all reported patients with LARS2 mutations (15 patients in 8 families) have been classified as type 1...
December 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29201326/a-challenging-entity-multiple-sclerosis-or-collagen-tissue-disorders-a-case-series-of-6-patients
#12
Raida Ben Salah, Yosra Cherif, Faten Frikha, Dammak Chifaa, Mouna Snoussi, Moez Jallouli, Sameh Marzouk, Mhiri Chokri, Zouhir Bahloul
Background: Multiple sclerosis and other demyelinating processes are sometimes difficult to differentiate from the neurological involvement in autoimmune diseases. Distinguishing multiple sclerosis from other lesions due to autoimmune diseases is crucial to avoid unsuitable or delayed treatments. Methods: Charts of 6 patients diagnosed with mimicking multiple sclerosis between 1996 and 2014 were retrospectively assessed. Results: The mean age at diagnosis was 35±7 years...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29190864/-administering-bars-in-children-with-ataxia-in-a-children-rehabilitation-center-in-chiapas-mexico
#13
Flor Guadalupe Perdomo-Rebollo, Anke Paula Ingrid Kleinert-Altamirano
BACKGROUND: Ataxias are an heterogeneous group of diseases with different etiologies. Scales are used to understand better its natural history and evaluate properly drug efficacy in clinical trials. SARA and ICARS scales have been the most studied and validated so far. BARS scale is based on a modified form of the ICARS scale and is valid, reliable and sufficiently fast for clinical purposes. METHODS: Cross-sectional, descriptive and correlational study. Kruskall-Wallis test was used...
November 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/29187688/-progressive-dysarthria-and-bilateral-sensory-disturbance-in-a-case-of-bilateral-ventrolateral-pontine-infarction
#14
Soichiro Abe, Shuhei Okazaki, Shuichi Tonomura, Kotaro Miyashita, Masafumi Ihara
A rare case of bilateral ventrolateral pontine infarction in a 70-year-old man who developed progressive dysarthria and bilateral sensory disturbance is reported with literature review. He had been diagnosed with hypertension, dyslipidemia, and impaired glucose tolerance 10 years earlier. Ten days before admission, he was aware of the difficulty in walking and speaking, which gradually worsened. On admission he showed bilateral thermal hypoalgesia of face and lower extremities, dysarthria, dysphagia, and ataxic gait...
November 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29184336/speech-signal-analysis-and-pattern-recognition-in-diagnosis-of-dysarthria
#15
Minu George Thoppil, C Santhosh Kumar, Anand Kumar, John Amose
Background: Dysarthria refers to a group of disorders resulting from disturbances in muscular control over the speech mechanism due to damage of central or peripheral nervous system. There is wide subjective variability in assessment of dysarthria between different clinicians. In our study, we tried to identify a pattern among types of dysarthria by acoustic analysis and to prevent intersubject variability. Objectives: (1) Pattern recognition among types of dysarthria with software tool and to compare with normal subjects...
October 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29177818/treatment-of-cerebellar-ataxia-in-the-context-of-systemic-diseases
#16
REVIEW
Malcolm Proudfoot, Alastair Wilkins
Purpose of review The purpose of this review is to assess the evidence behind treatment regimens for cerebellar ataxias occurring in the context of systemic disease. We will address systemic conditions which are associated with specific involvement of the cerebellum (rather than widespread nervous system involvement) and those conditions for which some degree of evidence of treatment response exists. Recent findings We have divided systemic disorders affecting the cerebellum into systemic immunological disorders, endocrine and metabolic disorders and paraneoplastic...
November 25, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29176543/a-rare-case-of-cerebellar-ataxia-due-to-voltage-gated-calcium-channel-and-glutamic-acid-decarboxylase-autoantibodies
#17
Giuseppe Annunziata, Pamela Lobo, Cristian Carbuccia
BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American woman with hypertension and a past history of morbid obesity and uncontrolled diabetes status post gastric bypass four years prior to the visit (with significantly improved body mass index and hemoglobin A1c controlled at the time of the clinical encounter) presented to the office complaining of gradual onset of unsteadiness and recurrent falls for the past three years, as well as difficulties coordinating routine daily activities...
November 27, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29174892/stall-in-canonical-autophagy-lysosome-pathways-prompts-nucleophagy-based-nuclear-breakdown-in-neurodegeneration
#18
Olga Baron, Adel Boudi, Catarina Dias, Michael Schilling, Anna Nölle, Gema Vizcay-Barrena, Ivan Rattray, Heinz Jungbluth, Wiep Scheper, Roland A Fleck, Gillian P Bates, Manolis Fanto
The terminal stages of neuronal degeneration and death in neurodegenerative diseases remain elusive. Autophagy is an essential catabolic process frequently failing in neurodegeneration. Selective autophagy routes have recently emerged, including nucleophagy, defined as degradation of nuclear components by autophagy. Here, we show that, in a mouse model for the polyglutamine disease dentatorubral-pallidoluysian atrophy (DRPLA), progressive acquirement of an ataxic phenotype is linked to severe cerebellar cellular pathology, characterized by nuclear degeneration through nucleophagy-based LaminB1 degradation and excretion...
November 17, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29149697/characteristics-of-motor-speech-phenotypes-in-multiple-sclerosis
#19
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
#20
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
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