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https://www.readbyqxmd.com/read/29679845/establishment-of-stub1-chip-mutant-induced-pluripotent-stem-cells-ipscs-from-a-patient-with-gordon-holmes-syndrome-scar16
#1
Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser
STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Here, we reprogrammed human skin fibroblasts from a 12-year-old male patient with recessive spinocerebellar ataxia type 16 (OMIM #615768), carrying compound heterozygous mutations (c.355C>T, c.880A>T) in STUB1. Genomic integrity of the iPSC line HIHCNi001-A without transgene integration and genomic aberration but with maintained disease-relevant mutations was proven by SNP array analysis and Sanger sequencing while pluripotency was verified by the expression of important pluripotency markers and the capacity to differentiate into cells of all three germ layers...
April 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29679261/accumulation-of-mitochondrial-dna-common-deletion-since-the-preataxic-stage-of-machado-joseph-disease
#2
Mafalda Raposo, Amanda Ramos, Cristina Santos, Nadiya Kazachkova, Balbina Teixeira, Conceição Bettencourt, Manuela Lima
Molecular alterations reflecting pathophysiologic changes thought to occur many years before the clinical onset of Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3), a late-onset polyglutamine disorder, remain unidentified. The absence of molecular biomarkers hampers clinical trials, which lack sensitive measures of disease progression, preventing the identification of events occurring prior to clinical onset. Our aim was to analyse the mtDNA content and the amount of the common deletion (m...
April 21, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29678961/-capn1-mutations-broadening-the-hereditary-spastic-paraplegia-spinocerebellar-ataxia-phenotype
#3
Jeffrey Lambe, Bernadette Monaghan, Tudor Munteanu, Janice Redmond
Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity...
April 20, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29678716/surgical-management-of-medial-tentorial-meningioma-falcotentorial-and-torcular
#4
Andrea Talacchi, Antonio Biroli, Aurel Hasanbelliu, Francesca Locatelli
BACKGROUND: Falcotentorial meningiomas (FTM) stand out for their rarity, inconsistent definition, and surgical complexity. It is appropriate to deal with them in the context of medial tentorial meningiomas (MTM). METHODS: Clinical and radiological characteristics of MTM, comprising the typical features of FTM and tentorial meningioma (TM) along with surgical management, short- and long-term outcomes, are reported . RESULTS: FTM (n=16) were typically supratentorial, large, edematous tumors that caused mainly headache and hemianopia; TM (n=12) were infratentorial, smaller not edematous tumors that caused mainly headache and gait ataxia...
April 17, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29676235/current-and-promising-therapies-in-autosomal-recessive-ataxias
#5
Vincent Picher-Martel, Nicolas Dupre
BACKGROUND & OBJECTIVE: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described...
April 18, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29675114/a-comparative-study-of-conventional-physiotherapy-versus-robot-assisted-gait-training-associated-to-physiotherapy-in-individuals-with-ataxia-after-stroke
#6
Marcia Belas Dos Santos, Clarissa Barros de Oliveira, Arly Dos Santos, Cristhiane Garabello Pires, Viviana Dylewski, Ricardo Mario Arida
Objectives: To assess the influence of RAGT on balance, coordination, and functional independence in activities of daily living of chronic stroke survivors with ataxia at least one year of injury. Methods: It was a randomized controlled trial. The patients were allocated to either therapist-assisted gait training (TAGT) or robotic-assisted gait training (RAGT). Both groups received 3 weekly sessions of physiotherapy with an estimated duration of 60 minutes each and prescribed home exercises...
2018: Behavioural Neurology
https://www.readbyqxmd.com/read/29675084/two-sisters-with-angelman-syndrome-a-case-series-report
#7
Çelebi Kocaoğlu
Angelman syndrome (AS) is known as an intellectual disability related to speech impairment, ataxia and behavioral uniqueness, including a combination of frequent laughter and smiling, apparent happy demeanor, excitable personality and hypermotor behavior. In this report, we present a 5-year-old girl with AS associated with atypical clinical manifestations, including developmental dysplasia of the hip and simian line in the right hand, and her elder sister with AS. Even if any gene mutation cannot be demonstrated, it should be kept in mind that different mutations may exist in the cases that are the suggestive of clinical AS...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29675068/cerebellar-mutism-syndrome-following-midline-posterior-fossa-tumor-resection-in-children-an-institutional-experience
#8
Nand Kishore Gora, Ashok Gupta, Virendra Deo Sinha
Aim: Cerebellar mutism (CM) syndrome is a well-known and annoying complication of posterior fossa surgery in the pediatric age group. Risk factors such as the type of tumor, size, involvement of posterior fossa structures and hydrocephalus, and postoperative cerebellar swelling for CM were investigated in this study. Materials and Methods: A consecutive series of 33 children with midline posterior fossa tumors were operated at the SMS Medical College and Hospital, Department of Neurosurgery, Jaipur India, between September 2015 and December 2016...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29671898/serum-levetiracetam-concentrations-and-adverse-events-after-multiple-dose-extended-release-levetiracetam-administration-to-healthy-cats
#9
Heidi Barnes Heller, Martin Granick, Mathew Van Hesteren, Dawn M Boothe
BACKGROUND: Multiple dose administration of antiepileptic drugs to cats presents a challenge for owners. Extended release levetiracetam (XRL) has once daily recommended dosing interval, but multiple dose administration of XRL has not been evaluated in cats. OBJECTIVE: Evaluate serum levetiracetam concentrations and adverse clinical effects after 11 days of once daily XRL administration to healthy cats. ANIMALS: Nine healthy privately owned cats, body weight ≥ 5 kg METHODS: Extended release levetiracetam (500 mg/cat) was administered PO q24h for 10 days...
April 19, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29671179/clinical-infection-in-house-rats-rattus-rattus-caused-by-streptobacillus-notomytis
#10
Viktoria Michel, Claudia Ulber, Dietrich Pöhle, Beate Köpke, Katharina Engel, Ute Kaim, Ahmad Fawzy, Sophie Funk, Juliane Fornefett, Christoph Georg Baums, Tobias Eisenberg
Rat bite fever is an under-reported, under-diagnosed emerging zoonosis with worldwide distribution. Besides Spirillum minus, Streptobacillus moniliformis is the major causative microorganism although it usually colonises rats without any clinical signs. A group of house rats (Rattus rattus) kept in a zoo exhibition for educational purposes suffered from neurological signs including disorientation, torticollis, stall walking, ataxia and death. Gross pathological and histo-pathological examinations of the investigated rats revealed high-grade otitis interna et media, from which Streptobacillus notomytis was isolated in pure culture or as the predominant microorganism...
April 18, 2018: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/29671115/utility-of-dna-rna-protein-and-functional-approaches-to-solve-cryptic-immunodeficiencies
#11
Margot A Cousin, Matthew J Smith, Ashley N Sigafoos, Jay J Jin, Marine I Murphree, Nicole J Boczek, Patrick R Blackburn, Gavin R Oliver, Ross A Aleff, Karl J Clark, Eric D Wieben, Avni Y Joshi, Pavel N Pichurin, Roshini S Abraham, Eric W Klee
PURPOSE: We report a female infant identified by newborn screening for severe combined immunodeficiencies (NBS SCID) with T cell lymphopenia (TCL). The patient had persistently elevated alpha-fetoprotein (AFP) with IgA deficiency, and elevated IgM. Gene sequencing for a SCID panel was uninformative. We sought to determine the cause of the immunodeficiency in this infant. METHODS: We performed whole-exome sequencing (WES) on the patient and parents to identify a genetic diagnosis...
April 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29670407/first-episode-psychosis-as-the-initial-presentation-of-multiple-sclerosis-a-case-report
#12
Athena Enderami, Rose Fouladi, Seyed Hamzeh Hosseini
Background: Multiple sclerosis (MS) is an inflammatory disease that affects the central nervous system (CNS). MS with episode of psychosis is a rare entity, and to the best of our knowledge, no case has been reported from Iran till date. Case presentation: We report a case of MS with first-episode psychosis in a 27-year-old single man with no history of psychiatric disorder or drug abuse. The patient developed neurological symptoms after 3 months and was finally diagnosed as a case of MS...
2018: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29670152/improvement-of-cerebellar-ataxic-gait-by-injecting-cbln1-into-the-cerebellum-of-cbln1-null-mice
#13
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/29669602/cerebral-vasculitis-and-lateral-rectus-palsy-two-rare-central-nervous-system-complications-of-dengue-fever-two-case-reports-and-review-of-the-literature
#14
H M M Herath, J S Hewavithana, C M De Silva, O A R Kularathna, N P Weerasinghe
BACKGROUND: Dengue fever is a common mosquito-borne viral illness with a clinical spectrum ranging from a simple febrile illness to potentially life-threatening complications such as dengue hemorrhagic fever and dengue shock syndrome. Dengue infection can affect many organs, including the central nervous system. The neurological manifestations reported in dengue infections are meningitis, encephalitis, stroke, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. CASE PRESENTATION: We report the cases of two interesting patients with confirmed dengue infection who presented with complications of possible central nervous system vasculitis and cranial nerve palsy...
April 19, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29669169/genetic-testing-for-hereditary-prostate-cancer-current-status-and-limitations
#15
REVIEW
Jun Tu Zhen, Jamil Syed, Kevin Anh Nguyen, Michael S Leapman, Neeraj Agarwal, Karina Brierley, Xavier Llor, Erin Hofstatter, Brian Shuch
A significant proportion of prostate cancer diagnoses may be associated with a strong hereditary component. Men who have multiple single-gene polymorphisms and a family history of prostate cancer have a significantly greater risk of developing prostate cancer. Numerous single-gene alterations have been confirmed to increase the risk of prostate cancer. These include breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively), mutL homolog 1 (MLH1), mutS homologs 2 and 6 (MSH2 and MSH6, respectively), postmeiotic segregation increased 2 (PMS2), homeobox B13 (HOXB13), checkpoint kinase 2 (CHEK2), nibrin (NBN), BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and ataxia telangiectasia mutated (ATM)...
April 18, 2018: Cancer
https://www.readbyqxmd.com/read/29667898/wernicke-s-encephalopathy-after-cardiac-surgery
#16
Yoshiyuki Nishimura
A 76-year-old woman who had been on hemodialysis for 3 years developed ischemic mitral valve insufficiency, tricuspid insufficiency, and chronic atrial fibrillation, and underwent cardiac surgery. On the 4th postoperative day, she experienced a sudden disturbance of consciousness, aphasia, and limb ataxia. Brain computed tomography and magnetic resonance imaging showed no abnormalities. Wernicke's encephalopathy was suspected and the patient was given vitamin B1, whereupon her symptoms gradually improved. On the 42nd postoperative day, she was free of neurological symptoms and discharged...
January 1, 2018: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/29666984/unusual-white-matter-involvement-in-east-syndrome-associated-with-novel-kcnj10-mutations
#17
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients. METHODS: We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.Asn232Glnfs*14and p...
April 17, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29666341/genetic-testing-for-clinically-suspected-spinocerebellar-ataxias-report-from-a-tertiary-referral-centre-in-india
#18
Sowmya Devatha Venkatesh, Mahesh Kandasamy, Nagaraj S Moily, Radhika Vaidyanathan, Lakshmi Narayanan Kota, Syama Adhikarla, Ravi Yadav, Pramod Kumar Pal, Sanjeev Jain, Meera Purushottam
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29665859/morphology-and-genomic-hallmarks-of-breast-tumours-developed-by-atm-deleterious-variant-carriers
#19
Anne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Catherine Dubois d'Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques-Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier-Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat-Bouvet, Hélène Zattara, Jean-Pierre Fricker, Laurence Gladieff, Isabelle Coupier, Georgia Chenevix-Trench, Janet Hall, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
BACKGROUND: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. METHODS: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours...
April 17, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29665225/objective-and-quantitative-equilibriometric-evaluation-of-individual-locomotor-behaviour-in-schizophrenia-translational-and-clinical-implications
#20
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
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