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https://www.readbyqxmd.com/read/28430048/a-spinal-epidural-abscess-due-to-streptobacillus-moniliformis-infection-following-a-rat-bite-case-report
#1
Alexander Hammer, Dorit Wolff, Walter Geißdörfer, Michael Schrey, Renate Ziegler, Hans-Herbert Steiner, Christian Bogdan
The authors describe the case of a 40-year-old man suffering from an epidural abscess in the thoracic spine due to a rarely isolated pathogen, Streptobacillus moniliformis, the causative agent of rat bite fever. Besides diffuse abdominal pain, ataxia, paresthesia, hypesthesia, and enhanced reflexes of the lower extremities, the patient suffered from a decreased sensation of bladder filling. His history was also positive for a rat bite 6 weeks earlier. Magnetic resonance imaging showed an epidural, space-occupying lesion compressing the spinal cord at the vertebral levels of T6-8...
April 21, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28427701/multiple-sclerosis-showing-elevation-of-adenosine-deaminase-levels-in-the-cerebrospinal-fluid
#2
Miharu Samuraki, Kenji Sakai, Yasuko Odake, Mitsuhiro Yoshita, Kouichi Misaki, Mitsutoshi Nakada, Masahito Yamada
An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28424962/phase-i-dose-escalation-study-of-milciclib-in-combination-with-gemcitabine-in-patients-with-refractory-solid-tumors
#3
Sandrine Aspeslagh, Kunwar Shailubhai, Rastilav Bahleda, Anas Gazzah, Andréa Varga, Antoine Hollebecque, Christophe Massard, Anna Spreafico, Michele Reni, Jean-Charles Soria
BACKGROUND: This phase I trial evaluated the safety and tolerability of milciclib, an inhibitor of multiple cyclin-dependent kinases and tropomycin receptor kinase A, in combination with gemcitabine in patients with refractory solid tumors. DESIGN: Sixteen patients were enrolled and treated with milciclib at three dose levels (45 mg/m(2)/day, n = 3; 60 mg/m(2)/day, n = 3; and 80 mg/m(2)/day, n = 10) with a fixed dose of gemcitabine (1000 mg/m(2)/day). Milciclib was administered orally once daily for 7 days on/7 days off in a 4-week cycle, and gemcitabine was administered intravenously on days 1, 8 and 15 in a 4-week cycle...
April 19, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#4
Asfia Soomro, Richard J Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R Kuczmarski, Robert D Goldman, Maikel C Rheinstädter
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN...
April 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28423511/atm-kinase-sustains-breast-cancer-stem-like-cells-by-promoting-atg4c-expression-and-autophagy
#5
Martina Antonelli, Flavie Strappazzon, Ivan Arisi, Rossella Brandi, Mara D'Onofrio, Manolo Sambucci, Gwenola Manic, Ilio Vitale, Daniela Barilà, Venturina Stagni
The efficacy of Ataxia-Telangiectasia Mutated (ATM) kinase signalling inhibition in cancer therapy is tempered by the identification of new emerging functions of ATM, which suggests that the role of this protein in cancer progression is complex. We recently demonstrated that this tumor suppressor gene could act as tumor promoting factor in HER2 (Human Epidermal Growth Factor Receptor 2) positive breast cancer. Herein we put in evidence that ATM expression sustains the proportion of cells with a stem-like phenotype, measured as the capability to form mammospheres, independently of HER2 expression levels...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423040/inheritance-patterns-of-atcct-repeat-interruptions-in-spinocerebellar-ataxia-type-10-sca10-expansions
#6
Ivette Landrian, Karen N McFarland, Jilin Liu, Connie J Mulligan, Astrid Rasmussen, Tetsuo Ashizawa
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats...
2017: PloS One
https://www.readbyqxmd.com/read/28422131/variants-in-cplx1-in-two-families-with-autosomal-recessive-severe-infantile-myoclonic-epilepsy-and-id
#7
Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28422031/the-importance-of-labyrinthine-examination-in-the-prognosis-and-therapy-for-balance-in-spinocerebellar-ataxia
#8
João Henrique Faryniuk, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Vinicius Ribas Fo, Paulo Breno Noronha Liberalesso, Jair Mendes Marques
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41...
April 19, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28419947/efficacy-and-safety-of-eslicarbazepine-acetate-in-elderly-patients-with-focal-epilepsy-case-series
#9
A Gómez-Ibáñez, J M Serratosa, E Guillamón, M Garcés, B G Giráldez, M Toledo, J Salas-Puig, F J López-González, J Rodríguez-Uranga, A Castillo, J A Mauri, J L Camacho, E López-Gomáriz, P Giner, N Torres, J Palau, A Molins, V Villanueva
PURPOSE: Eslicarbazepine-acetate (ESL) is a third generation antiepileptic drug licensed as adjunctive therapy in adults with focal seizures. Efficacy and safety of ESL have been established in real-life setting. However, data about outcomes in elderly patients are scarce. Primary endpoint was to evaluate outcomes of ESL in elderly patients. METHOD: This was a retrospective survey that included patients >65years with focal seizures who started ESL between January 2010 and July 2012 at 12 Spanish Hospitals...
April 7, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28419566/perirhinal-accumulation-of-neuronal-alpha-synuclein-in-a-multiple-system-atrophy-patient-with-dementia
#10
Mari Saito, Makoto Hara, Momoko Ebashi, Akihiko Morita, Kyoko Okada, Taku Homma, Masahiko Sugitani, Kentaro Endo, Toshiki Uchihara, Satoshi Kamei
We report the case of a 79-year-old Japanese woman who developed cerebellar ataxia followed by rigidity, dysautonomia and cognitive disorders, and was thus clinically diagnosed as having possible MSA with dementia. Neuropathological findings demonstrated not only olivopontocerebellar and striatonigral degeneration with frequent glial cytoplasmic inclusions (GCIs), but also degenerative changes in the parahippocampal region, accentuated in the anterior portion of perirhinal cortex, where neuronal cytoplasmic inclusions (NCIs) and NFTs were numerous while GCIs were limited...
April 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28418844/loss-of-tumour-specific-atm-protein-expression-is-an-independent-prognostic-factor-in-early-resected-nsclc
#11
Lars F Petersen, Alexander C Klimowicz, Shannon Otsuka, Anifat A Elegbede, Stephanie K Petrillo, Tyler Williamson, Chris T Williamson, Mie Konno, Susan P Lees-Miller, Desiree Hao, Don Morris, Anthony M Magliocco, D Gwyn Bebb
Ataxia-telangiectasia mutated (ATM) is critical in maintaining genomic integrity. In response to DNA double-strand breaks, ATM phosphorylates downstream proteins involved in cell-cycle checkpoint arrest, DNA repair, and apoptosis. Here we investigate the frequency, and influence of ATM deficiency on outcome, in early-resected non-small cell lung cancer (NSCLC). Tissue microarrays, containing 165 formalin-fixed, paraffin-embedded resected NSCLC tumours from patients diagnosed at the Tom Baker Cancer Centre, Calgary, Canada, between 2003 and 2006, were analyzed for ATM expression using quantitative fluorescence immunohistochemistry...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28417137/adult-onset-sporadic-cerebellar-ataxia-in-singapore-diagnostic-outcomes-of-paraneoplastic-antibody-testing-and-early-clinical-features-of-paraneoplastic-cerebellar-degeneration
#12
Zheyu Xu, Jinglin Zhang, Samuel Ye Ng, Josiah Yh Chai, Louis Cs Tan
No abstract text is available yet for this article.
March 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#13
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28416844/clinical-characteristics-of-neurogenic-dysphagia-in-adult-patients-with-chiari-malformation-type-i
#14
T Yu, J Li, K Wang, Y Ge, A C Jiang, L P Duan, Z Y Wang
OBJECTIVE: To investigate changes of swallowing function and associated symptoms in Chiari malformation typeI (CMI) patients with and without dysphagia by the analysis of their clinical and high-resolution manometry (HRM) parameters. METHODS: A total of 42 patients diagnosed with symptomatic CMI without atlantoaxial dislocations which were confirmed by clinical manifestations and magnetic resonance imaging (MRI) findings between January 2010 and July 2015 at Peking University Third Hospital were included in this study...
April 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28416787/a-family-with-hereditary-cerebellar-ataxia-finally-confirmed-as-gerstmann-straussler-scheinker-syndrome-with-p102l-mutation-in-prnp-gene
#15
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28415165/progressive-supranuclear-gaze-palsy-with-predominant-cerebellar-ataxia-a-case-series-with-videos
#16
Zheyu Xu, Tchoyoson C C Lim, Wing Lok Au, Louis C S Tan
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2...
April 18, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28413544/abdominal-schwannoma-in-a-case-of-neurofibromatosis-type-2-a-report-of-a-rare-combination
#17
Khandkar Ali Kawsar, Md Raziul Haque, Forhad Hossain Chowdhury
Neurofibromatosis-2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular schwannomas (VSs) (acoustic neurinoma) as well as tumours of the peripheral and central nervous system, demonstrating a variety of expression. A 12-year-old girl presented to us with headache and ataxia for four months. We examined and found a lump in the right side of her abdomen. On magnetic resonance imaging (MRI) of brain, a bilateral VS at the cerebellopontine (CP) angle was detected, and on computerized tomography (CT) scan and ultrasonography of her abdomen a large retroperitoneal schwannoma was revealed in the right side of her abdomen...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28413174/an-outbreak-of-duck-hepatitis-a-virus-type-1-infection-in-japan
#18
Masahiro Kamomae, Mamoru Kameyama, Jun Ishii, Mikoto Nabe, Yuji Ogura, Hiroshi Iseki, Yu Yamamoto, Masaji Mase
In June 2015, a highly fatal and acute disease broke out in a duckling farm in Hyogo Prefecture, Japan. The birds exhibited poor growth, reduced movement, lying in a dorsal recumbent position, depression, lethargy, ataxia and opisthotonus, with a high mortality rate of approximately 76%. By performing a reverse transcription-polymerase chain reaction (RT-PCR) using primers specific for duck hepatitis A virus type 1 (DHAV-1), we obtained the PCR products of a predicted size. The nucleotide sequences of the PCR products showed a >96% identity with that of the DHAV-1, HB02 strain, which was isolated in China...
April 11, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28412459/no-changes-in-heme-synthesis-in-human-friedreich%C3%A2-s-ataxia-erythroid-progenitor-cells
#19
Hannes Steinkellner, Himanshu Narayan Singh, Martina U Muckenthaler, Hans Goldenberg, Rajeswari R Moganty, Barbara Scheiber-Mojdehkar, Brigitte Sturm
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the protein frataxin. Frataxin is thought to play a role in iron-sulfur cluster biogenesis and heme synthesis. In this study, we used erythroid progenitor stem cells obtained from FRDA patients and healthy donors to investigate the putative role, if any, of frataxin deficiency in heme synthesis. We used electrochemiluminescence and qRT-PCR for frataxin protein and mRNA quantification. We used atomic absorption spectrophotometry for iron levels and a photometric assay for hemoglobin levels...
April 12, 2017: Gene
https://www.readbyqxmd.com/read/28412374/a-novel-mitochondrial-atp6-frameshift-mutation-causing-isolated-complex-v-deficiency-ataxia-and-encephalomyopathy
#20
Christopher Benjamin Jackson, Dagmar Hahn, Barbara Schröter, Uwe Richter, Brendan Battersby, Thomas Schmitt-Mechelke, Paula Martinen, Jean-Marc Nuoffer, André Schaller
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells. Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency...
April 12, 2017: European Journal of Medical Genetics
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