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https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#1
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#2
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29137817/beyond-als-and-ftd-the-phenotypic-spectrum-of-tbk1-mutations-includes-psp-like-and-cerebellar-phenotypes
#3
Carlo Wilke, Jonathan Baets, Jan L De Bleecker, Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe, Matthis Synofzik
Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains to be elucidated. Using next-generation panel-sequencing of neurodegenerative disease genes, we identified a TBK1 index patient presenting with a progressive supranuclear palsy-like syndrome. Consecutively, we screened the whole-exome sequencing data of 439 index subjects presenting with various neurodegenerative syndromes outside the ALS-FTD spectrum for TBK1 mutations...
October 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29137650/recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#4
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency...
November 14, 2017: Human Genomics
https://www.readbyqxmd.com/read/29137421/gper-mediates-differential-effects-of-estrogen-on-colon-cancer-cell-proliferation-and-migration-under-normoxic-and-hypoxic-conditions
#5
Viviana Bustos, Áine M Nolan, Anke Nijhuis, Harry Harvey, Alexandra Parker, Richard Poulsom, Jean McBryan, Warren Thomas, Andrew Silver, Brian J Harvey
The estrogen receptor ERβ is the predominant ER subtype expressed in normal well-differentiated colonic epithelium. However, ERβ expression is lost under the hypoxic microenvironment as colorectal cancer (CRC) malignancy progresses. This raises questions about the role of signalling through other estrogen receptors such as ERα or G-protein coupled estrogen receptor (GPER, GPR30) by the estrogen 17β-estradiol (E2) under hypoxic conditions after ERβ is lost in CRC progression. We tested the hypothesis that E2 or hypoxia can act via GPER to contribute to the altered phenotype of CRC cells...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29133590/genotoxic-damage-activates-the-ampk-%C3%AE-1-isoform-in-the-nucleus-via-ca2-camkk2-signaling-to-enhance-tumor-cell-survival
#6
Diana Vara Ciruelos, Madhumita Dandapani, Alexander Gray, Ejaife O Egbani, A Mark Evans, D Grahame Hardie
Many genotoxic cancer treatments activate AMP-activated protein kinase (AMPK), but the mechanisms of AMPK activation in response to DNA damage, and its downstream consequences, have been unclear. In this study, etoposide activates the α1 but not the α2 isoform of AMPK, primarily within the nucleus. AMPK activation is independent of ataxia-telangiectasia mutated (ATM), a DNA damage-activated kinase, and the principal upstream kinase for AMPK, LKB1, but correlates with increased nuclear Ca2+ and requires the Ca2+/calmodulin-dependent kinase, CaMKK2...
November 13, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29130973/frequency-aetiology-and-outcome-of-small-cerebellar-infarction
#7
Zeljka Calic, Cecilia Cappelen-Smith, Ramesh Cuganesan, Craig S Anderson, Miriam Welgampola, Dennis J Cordato
BACKGROUND AND PURPOSE: Strokes due to small (<2 cm) cerebellar infarction are under-recognised, and their profile and aetiology have not been well characterised. We aimed to determine the frequency, clinical features, aetiology, and outcome of small as compared to large cerebellar infarction. METHODS: This study is a retrospective analysis of clinical and imaging features of a prospectively assessed series of 108 consecutive patients with acute cerebellar infarction admitted to Liverpool Hospital, Sydney, NSW, Australia, during 2011-2015...
November 2, 2017: Cerebrovascular Diseases Extra
https://www.readbyqxmd.com/read/29130632/dock3-related-neurodevelopmental-syndrome-biallelic-intragenic-deletion-of-dock3-in-a-boy-with-developmental-delay-and-hypotonia
#8
Aiko Iwata-Otsubo, Alyssa L Ritter, Brooke Weckselbatt, Nicole R Ryan, David Burgess, Laura K Conlin, Kosuke Izumi
Dedicator of cytokinesis (DOCK) family are evolutionary conserved guanine nucleotide exchange factors (GEFs) for the Rho GTPases, Rac, and Cdc42. DOCK3 functions as a GEF for Rac1, and plays an important role in promoting neurite and axonal growth by stimulating actin dynamics and microtubule assembly pathways in the central nervous system. Here we report a boy with developmental delay, hypotonia, and ataxia due to biallelic DOCK3 deletion. Chromosomal single nucleotide polymorphism (SNP) microarray analysis detected a 170 kb homozygous deletion including exons 6-12 of the DOCK3 gene at 3p21...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130498/peripheral-nerve-ultrasound-in-friedreich-s-ataxia
#9
Eoin Mulroy, Luciana Pelosi, Ruth Leadbetter, Purwa Joshi, Miriam Rodrigues, Stuart Mossman, Dean Kilfoyle, Richard Roxburgh
Introduction Sensory impairment in Friedreich's ataxia (FRDA) is generally accepted as being due to a ganglionopathy. The degree of contribution from axonal pathology remains a matter of debate. Nerve ultrasound may be able to differentiate these processes. Methods The ultrasound cross-sectional area of median, ulnar, tibial and sural nerves of 8 patients with FRDA was compared with 8 age- and gender-matched healthy controls and with reference values in our population. Results The nerves of the patients with FRDA were significantly larger than healthy controls' at all upper limb sites (p< 0...
November 11, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29129769/retrosigmoid-intradural-suprameatal-inframeatal-approach-for-complete-surgical-removal-of-a-giant-recurrent-vestibular-schwannoma-with-severe-petrous-bone-involvement-technical-case-report
#10
Yosuke Sato, Tohru Mizutani, Katsuyoshi Shimizu, Hans-Joachim Freund, Madjid Samii
BACKGROUND: Surgical removal of giant vestibular schwannomas with severe petrous bone involvement remains challenging due to the high risk of complications. The retrosigmoid intradural suprameatal-inframeatal approach (RISIA) allows for safe exposure extending from Meckel's cave to the petrous internal carotid artery (ICA). CLINICAL DESCRIPTION: A 27-year-old man presented with recurrence of a giant vestibular schwannoma (4.5 cm) invading Meckel's cave and the left petrous ICA...
November 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29128742/corrigendum-to-harmony-as-a-convergence-attractor-that-minimizes-the-energy-expenditure-and-variability-in-physiological-gait-and-the-loss-of-harmony-in-cerebellar-ataxia-clin-biomech-48-2017-15-23
#11
Mariano Serrao, Giorgia Chini, Marco Iosa, Carlo Casali, Giovanni Morone, Carmela Conte, Fabiano Bini, Franco Marinozzi, Gianluca Coppola, Francesco Pierelli, Francesco Draicchio, Alberto Ranavolo
No abstract text is available yet for this article.
November 9, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/29128624/wernicke-korsakoff-syndrome-complicated-by-subacute-beriberi-neuropathy-in-an-alcoholic-patient
#12
Salvatore Di Marco, Laura Pilati, Filippo Brighina, Brigida Fierro, Giuseppe Cosentino
Thiamine (vitamin B1) deficiency is a common condition in alcohol abusers, which can lead to damage of both the peripheral and the central nervous systems. Here we describe the case of an alcoholic patient who presented with acute onset of ataxia, severe weakness of the four limbs, and hypoesthesia and dysesthesia of the distal portion of the upper and lower extremities. The clinical picture also included mental confusion and amnesia. A diagnosis of Wernicke-Korsakoff syndrome was made based on clinical symptoms and brain RMI findings...
November 8, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29128564/epigenetic-mechanisms-of-atm-activation-after-helicobacter-pylori-infection
#13
Juliana Carvalho Santos, Rafael Zuppardo Gambeloni, Aline Tengan Roque, Sebastian Oeck, Marcelo Lima Ribeiro
Gastric cancer (GC) is the second leading cause of cancer-related mortality worldwide. The disease develops from the accumulation of several genetic and epigenetic changes. Among other risk factors, Helicobacter pylori infection is considered the main driving factor of GC development. H. pylori infection increases DNA damage levels and leads to epigenetic dysregulation, which may favor gastric carcinogenesis. An early step in double strand break repair is the recruitment of (ataxia-telangiectasia mutated serine/threonine kinase (ATM) to the damaged site, where it plays a key role in advancing the DNA damage checkpoint process...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29128327/clinical-predictors-of-stroke-mimics-in-patients-treated-with-recombinant-tissue-plasminogen-activator-according-to-a-normal-multimodal-computed-tomography-imaging
#14
Stephane Olindo, Martin Chardonnet, Pauline Renou, Cyrielle Coignion, Sabrina Debruxelles, Mathilde Poli, Sharmila Sagnier, François Rouanet, Igor Sibon
BACKGROUND: Multimodal computed tomography imaging (MCTI) is increasingly used for rapid assessment of acute stroke. We investigated characteristics and final diagnoses of patients treated with recombinant tissue plasminogen activator (rt-PA) while admission imaging was unremarkable. METHODS: From our prospectively collected stroke database (2013-2016), we identified consecutive patients treated with rt-PA on the basis of an unremarkable brain MCTI and assessed with a 24-hour follow-up brain magnetic resonance imaging (MRI)...
November 8, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29127364/comparing-ataxias-with-oculomotor-apraxia-a-multimodal-study-of-aoa1-aoa2-and-at-focusing-on-video-oculography-and-alpha-fetoprotein
#15
L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anheim
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29126306/the-future-of-radiobiology
#16
David G Kirsch, Max Diehn, Aparna H Kesarwala, Amit Maity, Meredith A Morgan, Julie K Schwarz, Robert Bristow, Sandra Demaria, Iris Eke, Robert J Griffin, Daphne Haas-Kogan, Geoff S Higgins, Alec C Kimmelman, Randall J Kimple, Isabelle M Lombaert, Li Ma, Brian Marples, Frank Pajonk, Catherine C Park, Dörthe Schaue, Eric J Bernhard
Innovation and progress in radiation oncology depend on discovery and insights realized through research in radiation biology. Radiobiology research has led to fundamental scientific insights, from the discovery of stem/progenitor cells to the definition of signal transduction pathways activated by ionizing radiation that are now recognized as integral to the DNA damage response (DDR). Radiobiological discoveries are guiding clinical trials that test radiation therapy combined with inhibitors of the DDR kinases DNA-dependent protein kinase (DNA-PK), ataxia telangiectasia mutated (ATM), ataxia telangiectasia related (ATR), and immune or cell cycle checkpoint inhibitors...
November 3, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29126212/hereditary-spastic-paraplegia-type-5-natural-history-biomarkers-and-a-randomized-controlled-trial
#17
Ludger Schöls, Tim W Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J Fraidakis, Andrea Martinuzzi, Jonas Alex Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenco, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M Bis, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1 deficiency has been shown to lead to accumulation of neurotoxic oxysterols. In this multicentre study, we have performed detailed clinical and biochemical analysis in 34 genetically confirmed SPG5 cases from 28 families, studied dose-dependent neurotoxicity of oxysterols in human cortical neurons and performed a randomized placebo-controlled double blind interventional trial targeting oxysterol accumulation in serum of SPG5 patients...
November 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29125828/comprehensive-analysis-of-gene-expression-patterns-in-friedreich-s-ataxia-fibroblasts-by-rna-sequencing-reveals-altered-levels-of-protein-synthesis-factors-and-solute-carriers
#18
Jill Sergesketter Napierala, Yanjie Li, Yue Lu, Kevin Lin, Lauren A Hauser, David R Lynch, Marek Napierala
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene. FRDA patients homozygous for GAA expansions have low FXN mRNA and protein levels when compared with heterozygous carriers or healthy controls. Frataxin is a mitochondrial protein involved in iron-sulfur cluster synthesis, and many FRDA phenotypes result from deficiencies in cellular metabolism due to lowered expression of FXN Presently, there is no effective treatment for FRDA, and biomarkers to measure therapeutic trial outcomes and/or to gauge disease progression are lacking...
November 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29125827/early-cerebellar-deficits-in-mitochondrial-biogenesis-and-respiratory-chain-complexes-in-the-kiko-mouse-model-of-friedreich-ataxia
#19
Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M Clark, Yi Na Dong, Sarah M Halawani, David R Lynch
Friedreich ataxia (FRDA), the most common recessive inherited ataxia, results from deficiency of frataxin, a small mitochondrial protein crucial for iron-sulphur cluster formation and ATP production. Frataxin deficiency is associated with mitochondrial dysfunction in FRDA patients and animal models; however, early mitochondrial pathology in FRDA cerebellum remains elusive. Using frataxin knock-in/knockout (KIKO) mice and KIKO mice carrying the mitoDendra transgene, we show early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in this FRDA model...
November 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29124983/comparative-toxicological-evaluation-of-nonylphenol-and-nonylphenol-polyethoxylates-using-human-keratinocytes
#20
Hyungjoo Kim, Sunhwa Oh, Myung Chan Gye, Incheol Shin
Nonylphenol polyethoxylates (NPEOs) are a major group of nonionic surfactants widely used in various detergents, cleaners, plastics, papers, and agro-chemical products. Nonylphenol (NP), which is a final degraded metabolite derived from NPEOs, has been reported as an endocrine disrupter, known to mimic or disturb reproductive hormone functions. Concern about the hazards of NP and NPEOs has generated legal restrictions and action plans worldwide. Considering the fact that NP and NPEOs are majorly used in the production of products such as detergents, shampoos, and cosmetics which frequently come into contact with the skin, we investigated the effects of NP and NPEOs on a human keratinocyte cell line (HaCaT)...
November 10, 2017: Drug and Chemical Toxicology
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