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https://www.readbyqxmd.com/read/28826917/missense-mutation-in-the-itpr1-gene-presenting-with-ataxic-cerebral-palsy-description-of-an-affected-family-and-literature-review
#1
Joyutpal Das, James Lilleker, Hannah Shereef, John Ealing
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1...
July 8, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28822974/sedative-and-cardiopulmonary-effects-of-dexmedetomidine-infusions-randomly-receiving-or-not-butorphanol-in-standing-horses
#2
Luíza Quintão Medeiros, Miguel Gozalo-Marcilla, Polly M Taylor, Daniela Campagnol, Flávia Augusta de Oliveira, Marcos Jun Watanabe, Antonio José de Araujo Aguiar
Dexmedetomidine (DEX) alone, or combined with butorphanol (BUT), may be administered by constant rate infusions (CRIs) in standing horses. This blinded, randomised, crossover study in six healthy adult horses aimed to determine the sedative and cardiopulmonary effects of DEX (dexmedetomidine (3.5 µg/kg+5 µg/kg/hour CRI) and DEX/BUT (dexmedetomidine (3.5 µg/kg+3.5 µg/kg/hour CRI) and butorphanol (20 µg/kg+24 µg/kg/hour CRI)). Head height above ground (HHAG), ataxia, responses to tactile/auditory stimuli and cardiopulmonary variables were recorded before, at 5/15/30/60/90 minutes and after CRIs terminated (15/30/60 minutes)...
August 19, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28822691/fatal-meningitis-in-swine-after-intrathecal-administration-of-adeno-associated-virus-expressing-syngeneic-interleukin-10
#3
Mark D Unger, Josef Pleticha, James E Collins, Anibal G Armien, Jennifer L Brazzell, Laura K Newman, Lukas F Heilmann, Jodi A Scholz, Timothy P Maus, Andreas S Beutler
Interleukin-10 (IL-10) delivered by intrathecal (i.t.) gene vectors is a candidate investigational new drug (IND) for several chronic neurological disorders such as neuropathic pain. We performed a preclinical safety study of IL-10. A syngeneic large animal model was used delivering porcine IL-10 (pIL-10) to the i.t. space in swine by adeno-associated virus serotype 8 (AAV8), a gene vector that was previously found to be nontoxic in the i.t. space. Unexpectedly, animals became ill, developing ataxia, seizures, and an inability to feed and drink, and required euthanasia...
August 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28821816/an-expandable-embryonic-stem-cell-derived-purkinje-neuron-progenitor-population-that-exhibits-in-vivo-maturation-in-the-adult-mouse-cerebellum
#4
Gustavo A Higuera, Grazia Iaffaldano, Meiwand Bedar, Guy Shpak, Robin Broersen, Shashini T Munshi, Catherine Dupont, Joost Gribnau, Femke M S de Vrij, Steven A Kushner, Chris I De Zeeuw
The directed differentiation of patient-derived induced pluripotent stem cells into cell-type specific neurons has inspired the development of therapeutic discovery for neurodegenerative diseases. Many forms of ataxia result from degeneration of cerebellar Purkinje cells, but thus far it has not been possible to efficiently generate Purkinje neuron (PN) progenitors from human or mouse pluripotent stem cells, let alone to develop a methodology for in vivo transplantation in the adult cerebellum. Here, we present a protocol to obtain an expandable population of cerebellar neuron progenitors from mouse embryonic stem cells...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821675/synergistic-toxicity-of-polyglutamine-expanded-tbp-in-glia-and-neuronal-cells-therapeutic-implications-for-sca17
#5
Yang Yang, Su Yang, Jifeng Guo, Yiting Cui, Baisha Tang, Xiao-Jiang Li, Shihua Li
Spinocerebellar ataxia 17 (SCA17) is caused by polyglutamine (polyQ) repeat expansion in the TATA-binding protein (TBP) and is among a family of neurodegenerative diseases in which polyQ expansion leads to preferential neuronal loss in the brain. Although previous studies have demonstrated that expression of polyQ-expanded proteins in glial cells can cause neuronal injury via non-cell-autonomous mechanisms, these studies investigated animal models that overexpress transgenic mutant proteins. Since glial cells are particularly reactive to overexpressed mutant proteins, it is important to investigate the in vivo role of glial dysfunction in neurodegeneration when mutant polyQ proteins are endogenously expressed...
August 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28821613/the-rir-motif-in-the-scaffold-protein-xrcc1-mediates-a-low-affinity-interaction-with-polynucleotide-kinase-phosphatase-pnkp-during-dna-single-strand-break-repair
#6
Claire Breslin, Rajam S Mani, Mesfin Fanta, Nicolas Hoch, Michael Weinfeld, Keith W Caldecott
The scaffold protein X-ray repair cross-complementing 1 (XRCC1) interacts with multiple enzymes involved in DNA base excision repair and single-strand break repair (SSBR) and is important for genetic integrity and normal neurological function. One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ)...
August 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28820634/in-vivo-and-in-vitro-effects-of-atm-atr-signaling-pathway-on-proliferation-apoptosis-and-radiosensitivity-of-nasopharyngeal-carcinoma-cells
#7
Ming Wang, Gang Liu, Guo-Ping Shan, Bing-Bing Wang
AIM: The study investigated the ability of ataxia-telangiectasia mutated (ATM)/Rad3-related (ATR) signaling pathway to influence the proliferation, apoptosis, and radiosensitivity of nasopharyngeal carcinoma (NPC) cells. MATERIALS AND METHODS: NPC tissues and corresponding adjacent normal tissues were collected from 143 NPC patients. The NPC CNE2 cells were assigned into a control group, X-ray group, CGK-733 group, and X-ray+CGK-733 group. The mRNA levels of ATM and ATR were evaluated using quantitative real-time polymerase chain reaction (qRT-PCR) and the protein levels of ATM and ATR using western blotting...
August 2017: Cancer Biotherapy & Radiopharmaceuticals
https://www.readbyqxmd.com/read/28820495/human-papillomavirus-and-the-dna-damage-response-exploiting-host-repair-pathways-for-viral-replication
#8
REVIEW
Chelsey C Spriggs, Laimonis A Laimins
High-risk human papillomaviruses (HPVs) are the causative agents of cervical and other genital cancers. In addition, HPV infections are associated with the development of many oropharyngeal cancers. HPVs activate and repress a number of host cellular pathways to promote their viral life cycles, including those of the DNA damage response. High-risk HPVs activate the ataxia telangiectasia-mutated (ATM) and ATM and Rad3-related (ATR) DNA damage repair pathways, which are essential for viral replication (particularly differentiation-dependent genome amplification)...
August 18, 2017: Viruses
https://www.readbyqxmd.com/read/28820014/postinfectious-anti-myelin-oligodendrocyte-glycoprotein-antibody-positive-optic-neuritis-and-myelitis
#9
J P Vieira, J Sequeira, M J Brito
We report the case of a 9-year-old girl admitted with fever, headache, and a cerebrospinal fluid lymphocytic pleocytosis. Polymerase chain reaction was positive for human herpes virus 6. She subsequently developed ataxia and bilateral loss of vision. Magnetic resonance imaging (MRI) showed bilateral optic nerve lesions with extension to optic chiasm and a short-segment myelitis. Serologic studies were positive for Borrelia burgdorferi IgM. Anti-aquaporin 4 antibody was negative and anti-myelin oligodendrocyte glycoprotein antibody (MOG) positive...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28819077/-gluten-ataxia-anti-transglutaminase-6-antibody-as-a-new-biomarker
#10
Kenji Sato, Kazunori Nanri
Gluten-related disorders (GRDs) are conditions that develop in response to the common trigger of gluten ingestion and manifest as a variety of clinical symptoms. GRDs have been considered rare in Asian countries, including Japan, because of lower consumption of wheat products than in Europe and the U.S.A. and differences in genetic background. Recently, however, GRDs, such as celiac disease and gluten ataxia, have been reported in Japan, albeit sporadically and their presence is now recognized in this country...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819076/-molecularly-targeted-therapy-of-spinocerebellar-ataxia-type-1-by-hmgb1
#11
Kyota Fujita, Hitoshi Okazawa
Spinocerebellar ataxia type 1 (SCA1) is an untreatable neurodegenerative disease. We reported a decrease in HMGB1 levels in the nucleus of cerebellar neurons in mouse SCA 1. The decrease in this DNA architectural protein leads to the impairment of DNA repair and transcription, the two essential nuclear functions, and eventually causes neurodegeneration. We have designed a gene therapy using AAV-HMGB1 and tested it using the mouse model. Based on the results of these proof of concept (POC) studies, we are now preparing GMP-level AAV vector and designing human clinical trials...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819075/-advances-in-neurological-therapeutics-for-friedreich-ataxia-and-machado-joseph-disease
#12
Ichiro Yabe, Hidenao Sasaki
We reviewed advances in therapeutics for both Friedreich ataxia and Machado-Joseph disease. Various clinical trials have been carried out, mainly for Friedreich ataxia; however, the therapeutic reports from these trials have not provided much evidence for success. Some interesting clinical trials have been reported, and further developments are expected. Regenerative therapy using umbilical cord mesenchymal stem cells and a therapeutic study investigating a new pathomechanism in animal and/or cell culture studies were reported...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819073/-recent-topics-in-autosomal-dominantly-inherited-spinocerebellar-ataxias
#13
Yoshio Ikeda
Among various dominantly inherited spinocerebellar ataxias (SCAs), it is revealed that the molecular mechanism of so called "non-coding microsatellite repeat expansion disorders" was involved in RNA gain-of-function as well as "RAN translation". Recently, the "polyglutamine disorders" caused by the coding CAG repeat expansions were also clarified that they were involved in RNA mechanism or RAN translation. The common molecular mechanism might exist between SCAs of which the repeat expansions were located in both coding and non-coding regions...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819072/-overview-of-hereditary-spinocerebellar-ataxias-in-japan
#14
Masayoshi Tada, Akio Yokoseki, Osamu Onodera
Hereditary spinocerebellar degenerations (SCD) are a group of neurodegenerative disorders characterized by slowly progressive ataxia associated with non-cerebellar neurological signs and symptoms. In the Japanese population, dominantly inherited SCDs are much more common than recessively inherited or X-linked SCDs. The most common dominantly inherited SCD in Japan, as well as in many other countries, is Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (MJD/SCA3). MJD/SCA3 is frequently accompanied by non-cerebellar symptoms, including progressive external ophthalmoplegia, pyramidal signs, dystonia, rigidity, dysarthria, and distal muscle atrophies...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819025/mre11-promotes-tumorigenesis-by-facilitating-resistance-to-oncogene-induced-replication-stress
#15
Elizabeth Spehalski, Kayla M Capper, Cheryl J Smith, Mary J Morgan, Maria Dinkelmann, Jeffrey Buis, JoAnn M Sekiguchi, David O Ferguson
Hypomorphic mutations in the genes encoding the MRE11/RAD50/NBS1 (MRN) DNA repair complex lead to cancer-prone syndromes. MRN binds DNA double strand breaks where it functions in repair and triggers cell cycle checkpoints via activation of the ataxia-telangiectasia mutated (ATM) kinase. To gain understanding of MRN in cancer, we engineered mice with B lymphocytes lacking MRN, or harboring MRN in which MRE11 lacks nuclease activities. Both forms of MRN deficiency led to hallmarks of cancer, including oncogenic translocations involving c-Myc and the immunoglobulin locus...
August 17, 2017: Cancer Research
https://www.readbyqxmd.com/read/28818686/methyleugenol-and-selected-oxidative-metabolites-affect-dna-damage-signalling-pathways-and-induce-apoptosis-in-human-colon-tumour-ht29-cells
#16
Isabel Anna Maria Groh, Melanie Esselen
Previously the food carcinogen methyleugenol was found to be cytotoxic and genotoxic in multiple cell lines and in primary hepatocytes. In this study, the question addressed was whether methyleugenol and the selected oxidative metabolites, 1'-hydroxymethyleugenol, methyleugenol-2',3'-epoxide and 3'-oxomethylisoeugenol trigger a DNA damage response in the human colon carcinoma HT29 cell line. Most notably investigations by flow cytometry revealed that the metabolites induce an accumulation of HT29 cells in the G2 phase of the cell cycle...
August 14, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28815575/validation-of-the-scale-for-assessment-and-rating-of-ataxia-testing-a-test-and-failing-it
#17
David L Streiner
No abstract text is available yet for this article.
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28815574/age-related-reference-values-for-the-pediatric-scale-for-assessment-and-rating-of-ataxia-a-multicentre-study
#18
Tjitske F Lawerman, Rick Brandsma, Huibert Burger, Johannes G M Burgerhof, Deborah A Sival
AIM: For reliable assessment of ataxia severity in children, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society aimed to validate the Scale for Assessment and Rating of Ataxia (SARA) according to age. METHOD: Twenty-two pediatric ataxia experts from 15 international institutions scored videotaped SARA performances in 156 typically developing children (4-16y: m/f=1; 12 children per year of age; including nine different nationalities)...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28815208/novel-polg-variants-associated-with-late-onset-de-novo-status-epilepticus-and-progressive-ataxia
#19
Yi Shiau Ng, Helen Powell, Nigel Hoggard, Doug M Turnbull, Robert W Taylor, Marios Hadjivassiliou
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28813814/toward-quantitative-characterization-of-essential-tremor-for-future-tremor-suppression
#20
Steven K Charles, Daniel W Geiger, Andrew D Davidson, Adam C Pigg, C Paul Curtis, Brendon C Allen
Tremor is the most common movement deficit and manifests in a variety of disorders, including Essential Tremor, Parkinson's Disease, Dystonia, and Cerebellar Ataxia. Although medication and surgical interventions have significantly reduced patient suffering, they are only partially effective and can carry undesired side effects, leaving many patients without satisfactory treatment options. Wearable tremor-suppressing devices could provide an alternative to medication and surgery. Multiple research groups have developed orthotic prototypes to low-pass filter tremor, but these devices have not yet been optimized for in-vivo use...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
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