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Friedreich ataxia

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https://www.readbyqxmd.com/read/29130498/peripheral-nerve-ultrasound-in-friedreich-s-ataxia
#1
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/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
#2
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
#3
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/29113982/nanopore-sequencing-of-complex-genomic-rearrangements-in-yeast-reveals-mechanisms-of-repeat-mediated-double-strand-break-repair
#4
Ryan J McGinty, Rachel G Rubinstein, Alexander J Neil, Margaret Dominska, Denis Kiktev, Thomas D Petes, Sergei M Mirkin
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy and (CGG)n repeats in fragile X syndrome, are also subject to double strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects...
November 7, 2017: Genome Research
https://www.readbyqxmd.com/read/29097312/insights-on-the-conformational-dynamics-of-human-frataxin-through-modifications-of-loop-1
#5
Martín E Noguera, Martín Aran, Clara Smal, Diego S Vazquez, María Georgina Herrera, Ernesto A Roman, Nadine Alaimo, Mariana Gallo, Javier Santos
Human frataxin (FXN) is a highly conserved mitochondrial protein involved in iron homeostasis and activation of the iron-sulfur cluster assembly. FXN deficiency causes the neurodegenerative disease Friedreich's Ataxia. Here, we investigated the effect of alterations in loop-1, a stretch presumably essential for FXN function, on the conformational stability and dynamics of the native state. We generated four loop-1 variants, carrying substitutions, insertions and deletions. All of them were stable and well-folded proteins...
October 30, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29090418/chemical-shift-assignment-of-a-thermophile-frataxin
#6
Masooma Rasheed, Robert Yan, Geoff Kelly, Annalisa Pastore
Frataxin is the protein responsible for the genetically-inherited neurodegenerative disease Friedreich's ataxia caused by partial silencing of the protein and loss of function. Although the frataxin function is not yet entirely clear, it has been associated to the machine that builds iron-sulfur clusters, essential prosthetic groups involved in several processes and is strongly conserved in organisms from bacteria to humans. Two of its important molecular partners are the protein NFS1 (or IscS in bacteria), that is the desulfurase which converts cysteine to alanine and produces sulfur, and ISU (or IscU), the scaffold protein which transiently accepts the cluster...
October 31, 2017: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/29072092/can-rehabilitation-improve-the-health-and-well-being-in-friedreich-s-ataxia-a-randomized-controlled-trial
#7
Sarah C Milne, Louise A Corben, Melissa Roberts, Anna Murphy, Geneieve Tai, Nellie Georgiou-Karistianis, Eppie M Yiu, Martin B Delatycki
OBJECTIVE: To determine the effectiveness of a six-week rehabilitation programme followed by a home exercise programme for Friedreich's ataxia. DESIGN: Randomized, delayed-start control single-blind trial. SETTING: Outpatient rehabilitation centre. SUBJECTS: Ambulant or non-ambulant individuals with Friedreich's ataxia. INTERVENTION: Participants were randomized to a six-week outpatient rehabilitation programme, immediately (intervention group) or after a six-week delayed-start (control group)...
October 1, 2017: Clinical Rehabilitation
https://www.readbyqxmd.com/read/29070698/transplantation-of-wild-type-mouse-hematopoietic-stem-and-progenitor-cells-ameliorates-deficits-in-a-mouse-model-of-friedreich-s-ataxia
#8
Celine J Rocca, Spencer M Goodman, Jennifer N Dulin, Joseph H Haquang, Ilya Gertsman, Jordan Blondelle, Janell L M Smith, Charles J Heyser, Stephanie Cherqui
Friedreich's ataxia (FRDA) is an incurable autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin due to an intronic GAA-repeat expansion in the FXN gene. We report the therapeutic efficacy of transplanting wild-type mouse hematopoietic stem and progenitor cells (HSPCs) into the YG8R mouse model of FRDA. In the HSPC-transplanted YG8R mice, development of muscle weakness and locomotor deficits was abrogated as was degeneration of large sensory neurons in the dorsal root ganglia (DRGs) and mitochondrial capacity was improved in brain, skeletal muscle, and heart...
October 25, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29059291/cardiomyopathy-in-friedreich-s-ataxia
#9
Pablo Salazar, Raksha Indorkar, Michael Dietrich, Afshin Farzaneh-Far
No abstract text is available yet for this article.
October 20, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29057804/nrf2-inducers-counteract-neurodegeneration-in-frataxin-silenced-motor-neurons-disclosing-new-therapeutic-targets-for-friedreich-s-ataxia
#10
Sara Petrillo, Emanuela Piermarini, Anna Pastore, Gessica Vasco, Tommaso Schirinzi, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte
Oxidative stress is actively involved in Friedreich's Ataxia (FA), thus pharmacological targeting of the antioxidant machinery may have therapeutic value. Here, we analyzed the relevance of the antioxidant phase II response mediated by the transcription factor Nrf2 on frataxin-deficient cultured motor neurons and on fibroblasts of patients. The in vitro treatment of the potent Nrf2 activator sulforaphane increased Nrf2 protein levels and led to the upregulation of phase II antioxidant enzymes. The neuroprotective effects were accompanied by an increase in neurites' number and extension...
October 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29053830/friedreich-s-ataxia-clinical-features-pathogenesis-and-management
#11
A Cook, P Giunti
Introduction: Friedreich's ataxia is the most common inherited ataxia. Sources of data: Literature search using PubMed with keywords Friedreich's ataxia together with published papers known to the authors. Areas of agreement: The last decade has seen important advances in our understanding of the pathogenesis of disease. In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets...
October 19, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/29046887/erratum-selected-missense-mutations-impair-frataxin-processing-in-friedreich-ataxia
#12
(no author information available yet)
[This corrects the article DOI: 10.1002/acn3.433.].
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29044877/sustained-fxn-expression-in-dorsal-root-ganglia-from-a-nonreplicative-genomic-hsv-1-vector
#13
Maria Ventosa, Zetang Wu, Filip Lim
BACKGROUND: Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disease caused by mutations in the frataxin gene (FXN), which lead to reduced levels of the essential mitochondrial protein frataxin. Currently there is no effective cure. METHODS: With the aim of developing a gene therapy for FA neuropathology, here we describe the construction and preliminary characterization of a high capacity nonreplicative genomic herpes simplex virus type 1 vector (H24B-FXNlac vector) carrying a reduced version of the human FXN genomic locus, comprising the 5 kb promoter and the FXN cDNA with the inclusion of intron 1...
October 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29044418/friedreich-ataxia-developmental-failure-of-the-dorsal-root-entry-zone
#14
Arnulf H Koeppen, Alyssa B Becker, Jiang Qian, Benjamin B Gelman, Joseph E Mazurkiewicz
Dorsal root ganglia, dorsal roots (DR), and dorsal root entry zones (DREZ) are vulnerable to frataxin deficiency in Friedreich ataxia (FA). A previously unrecognized abnormality is the intrusion of astroglial tissue into DR. Segments of formalin-fixed upper lumbar spinal cord of 13 homozygous and 2 compound heterozygous FA patients were sectioned longitudinally to represent DREZ and stained for glial fibrillary acidic protein (GFAP), S100, vimentin, the central nervous system (CNS)-specific myelin protein proteolipid protein, the peripheral nervous system (PNS) myelin proteins PMP-22 and P0, and the Schwann cell proteins laminin, alpha-dystroglycan, and periaxin...
November 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28986271/the-subclinical-cardiomyopathy-of-friedreich-s-ataxia-in-a-pediatric-population
#15
Jonathan F Plehn, Keren Hasbani, Inez Ernst, Kenneth D Horton, Bart E Drinkard, Nicholas A Di Prospero
BACKGROUND: Identification of a subclinical cardiomyopathy in a pediatric patients with Friedreich's ataxia (FA) has not been well-described. METHODS: We performed echocardiography (echo), cardiac magnetic resonance imaging (cMRI) and neurologic assessment in a cross-sectional analysis of 48 genetically-confirmed FA subjects aged 9-17 years with moderate neurologic impairment but without a cardiovascular history. Echo and cMRI-determined left ventricular mass were indexed to height in g/m2...
October 3, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28980774/frataxin-deficient-neurons-and-mice-models-of-friedreich-ataxia-are-improved-by-tat-mtscs-fxn-treatment
#16
Elena Britti, Fabien Delaspre, Anat Feldman, Melissa Osborne, Hagar Greif, Jordi Tamarit, Joaquim Ros
Friedreich ataxia (FA) is a rare disease caused by deficiency of frataxin, a mitochondrial protein. As there is no cure available for this disease, many strategies have been developed to reduce the deleterious effects of such deficiency. One of these approaches is based on delivering frataxin to the tissues by coupling the protein to trans-activator of transcription (TAT) peptides, which enables cell membranes crossing. In this study, we tested the efficiency of TAT-MTScs-FXN fusion protein to decrease neurodegeneration markers on frataxin-depleted neurons obtained from dorsal root ganglia (DRG), one of the most affected tissues...
October 5, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28972115/teaching-video-neuroimages-spastic-ataxia-syndrome-the-friedreich-like-phenotype-of-arsacs
#17
Paula Saffie, Marcelo A Kauffman, Jose Manuel Fernandez, Ignacio Acosta, Alberto J Espay, Andrés de la Cerda
No abstract text is available yet for this article.
October 3, 2017: Neurology
https://www.readbyqxmd.com/read/28968242/huntington-s-disease-and-diabetes-chronological-sequence-of-its-association
#18
María Teresa Montojo, Miguel Aganzo, Nieves González
Although Huntington's disease (HD) is primarily considered a rare neurodegenerative disorder, it has been linked to glucose metabolism alterations and diabetes, as has been described in other neuro syndromes such as Friedreich's ataxia or Alzheimer's disease. This review surveys the existing literature on HD and its potential relationship with diabetes, glucose metabolism-related indexes and pancreas morphology, in humans and in animal's models. The information is reported in chronological sequence. That is, studies performed before and after the identification of the genetic defect underlying HD (CAG: encoding glutamine ≥36 repeats located in exon 1 of the HTT gene) and with the development and evolution of HD animal models...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28960046/a-mild-form-of-cog5-defect-showing-early-childhood-onset-friedreich-s-ataxia-like-phenotypes-with-isolated-cerebellar-atrophy
#19
Young Ok Kim, Misun Yun, Jae Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Woo
Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. Although their phenotypes were similar to those observed in patients with autosomal recessive cerebellar ataxias, other phenotypes (e.g., seizure, movement disorders, ophthalmologic disturbance, cardiomyopathy, and cutaneous disorders) were not noted in this family...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28950889/urinary-bowel-and-sexual-symptoms-in-a-cohort-of-patients-with-friedreich-s-ataxia
#20
Meher Lad, Michael H Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti
BACKGROUND: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA. METHODS: Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living...
September 26, 2017: Orphanet Journal of Rare Diseases
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