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Friedrich's ataxia

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https://www.readbyqxmd.com/read/26829281/foetal-and-neonatal-intracranial-haemorrhage-in-term-newborn-infants-hacettepe-university-experience
#1
Betül Tavil, Ayşe Korkmaz, Turan Bayhan, Selin Aytaç, Sule Unal, Baris Kuskonmaz, Sule Yigit, Mualla Cetin, Murat Yurdakök, Fatma Gumruk
In this study, we aimed to evaluate the incidence, risk factors, causes and clinical management of intracranial haemorrhage (ICH) diagnosed during foetal life or in the first month of life in term neonates with a discussion of the role of haematological risk factors. This study included term neonates (gestational age 37-42 weeks) with ICH diagnosed, treated and followed up in the Neonatal Intensive Care Unit of Hacettepe University, Ankara, Turkey, between January 1994 and January 2014. Medical follow-up was obtained retrospectively from hospital files and prospectively from telephonic interviews and/or clinical visits...
March 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/26252983/clippers-syndrome-an-entity-to-be-faced-in-neurosurgery
#2
Majid Esmaeilzadeh, Özlem Yildiz, Josef M Lang, Florian Wegner, Bernd Haubitz, Friedrich Feuerhake, Arne Wrede, Wolfgang Brück, Reinhard Dengler, Joachim K Krauss
BACKGROUND: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disorder of the central nervous system; it has only recently been defined and to date has received only limited attention. Its cause is as yet unknown. The pathologic characteristics are infiltration of T lymphocytes into the perivascular spaces of the pons, responsiveness to immunotherapy, and gadolinium-enhancing punctiform lesions in the brainstem seen on magnetic resonance imaging (MRI)...
December 2015: World Neurosurgery
https://www.readbyqxmd.com/read/26025547/clinical-pattern-mutations-and-in-vitro-residual-activity-in-33-patients-with-severe-5-10-methylenetetrahydrofolate-reductase-mthfr-deficiency
#3
Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D Sean Froese, Terttu Suormala, Bruria Ben Zeev, Patrick F Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Mübeccel Demirkol, Johannes Häberle, Alexander Lossos, Eugen Mengel, Andrew A Morris, Klary E Niezen-Koning, Barbara Plecko, Rossella Parini, Dariusz Rokicki, Manuel Schiff, Mareike Schimmel, Adrian C Sewell, Wolfgang Sperl, Ute Spiekerkoetter, Beat Steinmann, Grazia Taddeucci, Jose M Trejo-Gabriel-Galán, Friedrich Trefz, Megumi Tsuji, María Antònia Vilaseca, Jürgen-Christoph von Kleist-Retzow, Valerie Walker, Jiri Zeman, Matthias R Baumgartner, Brian Fowler
BACKGROUND: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients. METHODS: Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire. MTHFR activity was measured in primary fibroblasts; genomic DNA was extracted from cultured fibroblasts...
January 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/25555122/primitive-neuroectodermal-tumors-of-the-brainstem-in-children-treated-according-to-the-hit-trials-clinical-findings-of-a-rare-disease
#4
Carsten Friedrich, Monika Warmuth-Metz, André O von Bueren, Johannes Nowak, Brigitte Bison, Katja von Hoff, Torsten Pietsch, Rolf D Kortmann, Stefan Rutkowski
OBJECT: Primitive neuroectodermal tumors of the central nervous system (CNS-PNET) arising in the brainstem are extremely rare, and knowledge about them is limited. The few existing case series report fatal outcomes. The purpose of this study was to analyze clinical characteristics of and outcome for brainstem CNS-PNET patients treated according to the consecutive, population-based HIT studies covering a 19-year time period. METHODS: Between September 1992 and November 2011, 6 eligible children with histologically proven brainstem CNS-PNET not otherwise specified and 2 children with brainstem ependymoblastomas (3, partial resection; 3, subtotal resection; 2, biopsy), median age 3...
March 2015: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/25537484/liver-growth-factor-as-a-tissue-regenerating-factor-in-neurodegenerative-diseases
#5
REVIEW
Rafael Gonzalo-Gobernado, Lucia Calatrava-Ferreras, Juan Perucho, Diana Reimers, MarIa J Casarejos, Antonio S Herranz, Adriano Jimenez-Escrig, Juan J Diaz-Gil, Eulalia Bazan
Liver growth factor (LGF) is a hepatic mitogen purified by our group in 1986. In the following years we demonstrated its activity both in "in vivo" and "in vitro" systems, stimulating hepatocytes mitogenesis as well as liver regeneration in several models of liver injury. Furthermore, we established its chemical composition (albumin-bilirubin complex) and its mitogenic actions in liver. From 2000 onwards we used LGF as a tissue regenerating factor in several models of extrahepatic diseases. The use of Liver growth factor as a neural tissue regenerator has been recently protected (Patent No US 2014/8,642,551 B2)...
2014: Recent Patents on CNS Drug Discovery
https://www.readbyqxmd.com/read/24653700/the-interplay-between-iron-accumulation-mitochondrial-dysfunction-and-inflammation-during-the-execution-step-of-neurodegenerative-disorders
#6
REVIEW
Pamela J Urrutia, Natalia P Mena, Marco T Núñez
A growing set of observations points to mitochondrial dysfunction, iron accumulation, oxidative damage and chronic inflammation as common pathognomonic signs of a number of neurodegenerative diseases that includes Alzheimer's disease, Huntington disease, amyotrophic lateral sclerosis, Friedrich's ataxia and Parkinson's disease. Particularly relevant for neurodegenerative processes is the relationship between mitochondria and iron. The mitochondrion upholds the synthesis of iron-sulfur clusters and heme, the most abundant iron-containing prosthetic groups in a large variety of proteins, so a fraction of incoming iron must go through this organelle before reaching its final destination...
2014: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/24639502/stat3-interrupts-atr-chk1-signaling-to-allow-oncovirus-mediated-cell-proliferation
#7
Siva Koganti, Joyce Hui-Yuen, Shane McAllister, Benjamin Gardner, Friedrich Grasser, Umaimainthan Palendira, Stuart G Tangye, Alexandra F Freeman, Sumita Bhaduri-McIntosh
DNA damage response (DDR) is a signaling network that senses DNA damage and activates response pathways to coordinate cell-cycle progression and DNA repair. Thus, DDR is critical for maintenance of genome stability, and presents a powerful defense against tumorigenesis. Therefore, to drive cell-proliferation and transformation, viral and cellular oncogenes need to circumvent DDR-induced cell-cycle checkpoints. Unlike in hereditary cancers, mechanisms that attenuate DDR and disrupt cell-cycle checkpoints in sporadic cancers are not well understood...
April 1, 2014: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/24206195/mitochondrial-metals-as-a-potential-therapeutic-target-in-neurodegeneration
#8
REVIEW
A Grubman, A R White, J R Liddell
Transition metals are critical for enzyme function and protein folding, but in excess can mediate neurotoxic oxidative processes. As mitochondria are particularly vulnerable to oxidative damage due to radicals generated during ATP production, mitochondrial biometal homeostasis must therefore be tightly controlled to safely harness the redox potential of metal enzyme cofactors. Dysregulation of metal functions is evident in numerous neurological disorders including Alzheimer's disease, stroke, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis and Friedrich's ataxia...
April 2014: British Journal of Pharmacology
https://www.readbyqxmd.com/read/24030952/next-generation-sequencing-for-molecular-diagnosis-of-neurological-disorders-using-ataxias-as-a-model
#9
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B E Becker, Katarzyna D Bera, Morag E Shanks, Lorna Gregory, David Buck, M Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J Morrison, Paul Worth, Malcolm Taylor, John Tolmie, Mary O'Regan, Ruth Valentine, Emily Packham, Julie Evans, Anneke Seller, Jiannis Ragoussis
Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next-generation sequencing promises to revolutionize genetic testing and shorten the 'diagnostic odyssey' for many of these patients. We performed a pilot study using heterogeneous ataxias as a model neurogenetic disorder to assess the introduction of next-generation sequencing into clinical practice...
October 2013: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/23560305/dynamic-mutations-where-are-they-now
#10
REVIEW
Clare L van Eyk, Robert I Richards
Dynamic mutations are those caused by the expansion of existing polymorphic DNA repeat sequences beyond a copy number threshold. These genetic mutations can give rise to dominant, recessive or X-linked disorders, dependent upon the location of the repeat sequence with respect to the genes that are affected by the expansion. The distinguishing feature of these mutations is their instability, which is a function of the copy number of repeats and can occur in either meiosis or mitosis. For some of the resultant disorders there is a relationship between repeat copy number and age-at-onset and/or severity ofsymptoms ofthe disease...
2012: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/22917585/comparative-analyses-of-purkinje-cell-gene-expression-profiles-reveal-shared-molecular-abnormalities-in-models-of-different-polyglutamine-diseases
#11
COMPARATIVE STUDY
Bernd Friedrich, Philipp Euler, Ruhtraut Ziegler, Alexandre Kuhn, Bernhard G Landwehrmeyer, Ruth Luthi-Carter, Cornelius Weiller, Sabine Hellwig, Birgit Zucker
Polyglutamine (PolyQ) diseases have common features that include progressive selective neurodegeneration and the formation of protein aggregates. There is growing evidence to suggest that critical nuclear events lead to transcriptional alterations in PolyQ diseases such as spinocerebellar ataxia type 7 (SCA7) and Huntington's disease (HD), conditions which share a cerebellar degenerative phenotype. Taking advantage of laser capture microdissection technique, we compared the Purkinje cell (PC) gene expression profiles of two transgenic polyQ mouse models (HD: R6/2; SCA7: P7E) by microarray analysis that was validated by real time quantitative PCR...
October 24, 2012: Brain Research
https://www.readbyqxmd.com/read/22712074/gene-expression-analysis-on-a-single-cell-level-in-purkinje-cells-of-huntington-s-disease-transgenic-mice
#12
Philipp Euler, Bernd Friedrich, Ruhtraut Ziegler, Alexandre Kuhn, Katrin S Lindenberg, Cornelius Weiller, Birgit Zucker
Ataxia is a clinical feature of most polyglutamine disorders. Cerebellar neurodegeneration of Purkinje cells (PCs) in Huntington’s Disease (HD) brain was described in the 1980s. PC death in the R6/2 transgenic model for HD was published by Turmaine et al. So far, PCs have not been examined on a single cell level. In order to begin to understand PC dysfunction and degeneration in HD we performed a gene expression study on laser-dissected PC based on a DNA microarray screening and quantitative real time PCR (Q-PCR)...
May 23, 2012: Neuroscience Letters
https://www.readbyqxmd.com/read/22327702/on-the-method-of-a-randomised-comparison-of-programmable-valves-with-and-without-gravitational-units-the-svasona-study
#13
RANDOMIZED CONTROLLED TRIAL
Johannes Lemcke, Ullrich Meier, Cornelia Müller, Michael Fritsch, Michael Kiefer, Regina Eymann, Uwe Kehler, Niels Langer, Martin U Schuhmann, Andreas Speil, Friedrich Weber, Victor Remenez, Veit Rohde, Hans-Christoph Ludwig, Dirk Stengel
OBJECTIVE: The supremacy of low-pressure valves (LPV) in the therapy of patients with idiopathic normal pressure hydrocephalus (iNPH) has been proven by the Dutch NPH study. The downside of LPVs is the high rate of overdrainage complications. In the meantime gravitational units have been developed with the objective of minimising overdrainage complications. Do these gravitational units allow the same favourable outcomes as in the Dutch NPH study without overdrainage complications? The goal of this prospective randomised controlled multicentre trial is to compare the rate of overdrainage complications after shunt surgery with programmable valves with or without a gravitational unit...
2012: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/21092049/feasibility-of-implantable-cardioverter-defibrillator-treatment-in-five-patients-with-familial-friedreich-s-ataxia-a-case-series
#14
REVIEW
Kasim Oguz Coskun, Aron Frederik Popov, Jan Dieter Schmitto, Sinan Tolga Coskun, Ivo Brandes, Dieter Zenker, Ivan Melnychenko, Friedrich Albert Schoendube, Wolfgang Ruschewski
Friedreich's ataxia (FRA) is an autosomal recessive disease of the central nervous system that is associated with familial cardiomyopathy. Cardiac involvement is seen in more than 90% of the patients and is the most common cause of death in these patients. We present a case series and discuss the indications for implantable cardioverter defibrillator (ICD) implantation in FRA with review of the literature. Five pediatric patients who suffer from FRA (four female and one male, mean age 17.4 years) underwent ICD implantation between 2007 and 2008 in the University Hospital of Goettingen...
November 2010: Artificial Organs
https://www.readbyqxmd.com/read/20967472/what-can-drosophila-teach-us-about-iron-accumulation-neurodegenerative-disorders
#15
REVIEW
Uriya Bekenstein, Sebastian Kadener
The present review focuses on the development and use of Drosophila for modeling neurodegenerative disorders that involve iron accumulation, in particular Friedrich's Ataxia (FRDA) and Neurodegeneration with Iron accumulation (NBIA). Several Drosophila models of such disorders have been introduced successfully in the last few years. Here we review these models and note on the feasibility and advantages of using fly models for understanding the molecular and cellular bases of these devastating diseases.
March 2011: Journal of Neural Transmission
https://www.readbyqxmd.com/read/20052767/an-overview-of-l-2-hydroxyglutarate-dehydrogenase-gene-l2hgdh-variants-a-genotype-phenotype-study
#16
REVIEW
Marjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J M van Dooren, Maria T Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Baric, Matthias Baumann, Luisa Bonafé, Brigitte Chabrol, Joe T R Clarke, Peter Clayton, Mahmut Coker, Sarah Cooper, Tzipora Falik-Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoglu, Mary D King, Hans B C de Klerk, Stanley H Korman, Céline Lee, Allan Meldgaard Lund, Vlatka Mejaski-Bosnjak, Ignacio Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, Maria L Ruiz-Falco, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo-Martinez, Mohnish Suri, Jolanta Sykut-Cegielska, Friedrich K Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey-Saban, Stefan Vlaho, Julia Vodopiutz, Moacir Wajner, John Walter, Claudia Walter-Derbort, Zuhal Yapici, Dimitrios I Zafeiriou, Marieke D Spreeuwenberg, Jacopo Celli, Johan T den Dunnen, Marjo S van der Knaap, Gajja S Salomons
L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH. About 200 patients with elevated concentrations of 2-hydroxyglutarate (2HG) in the urine were referred for chiral determination of 2HG and L2HGDH mutational analysis...
April 2010: Human Mutation
https://www.readbyqxmd.com/read/19890241/role-of-mitochondria-in-neurodegenerative-diseases-mitochondria-as-a-therapeutic-target-in-alzheimer-s-disease
#17
REVIEW
P Hemachandra Reddy
A growing body of evidence suggests that mitochondrial abnormalities are involved in aging and in age-related neurodegenerative diseases as well as cancer, diabetes, and several other diseases known to be affected by mitochondria. Causal factors for most age-related neurodegenerative diseases-including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (ALS), and Friedrich ataxia (FRDA)-are largely unknown. Genetic defects are reported to cause a small number of neurodegenerative diseases, but cellular, molecular, and pathological mechanisms of disease progression and selective neuronal cell death are not understood fully in these diseases...
August 2009: CNS Spectrums
https://www.readbyqxmd.com/read/19661334/a-common-9-bp-deletion-in-the-ataxia-telangiectasia-mutated-gene-is-not-associated-with-oral-cancer
#18
COMPARATIVE STUDY
Sofia Spyridonidou, Christos Yapijakis, Emeka Nkenke, Takeshi Toyoshima, Antonis Vylliotis, Zoe Serefoglou, Friedrich W Neukam, Efstratios Patsouris, Eleftherios Vairaktaris
BACKGROUND: The ataxia-telangiectasia-mutated gene (ATM) product is a well-characterized tumour suppressor that plays a key role in the maintenance of genomic stability. Given the fact that the loss of heterozygosity at the ATM locus is common in head and neck tumours, we investigated the possible association of 7636del9, which is the most frequent ATM deletion, with risk for oral cancer. PATIENTS AND METHODS: The 7636del9 9nt deletion was investigated in DNA samples of 67 German and Greek patients with oral cancer and 57 healthy controls of equivalent ethnicity, age and gender, by polymerase chain reaction (PCR) followed by electrophoretic analysis...
August 2009: Anticancer Research
https://www.readbyqxmd.com/read/19575167/-peridural-anaesthesia-with-ropivacaine-for-a-patient-with-friedrich-s-ataxia-caesarean-section-after-dorsal-stabilisation-of-the-spinal-column-th5-l1
#19
P Hanusch, J Heyn, H Well, E Weninger, U Hasbargen, M Rehm
Friedreich's ataxia (FA) is a hereditary disease, which leads to degenerative changes in the spinal cord and cerebellum (incidence 1:50,000). These changes are caused by a defect in the gene that encodes a mitochondrial gene called frataxin and causes muscle weakness, scoliosis, cardiomyopathy and impaired glucose tolerance. Therefore, these patients require special care during anaesthesia. We report the case of a 25-year-old primigravida with a history of FA and dorsal stabilisation of the vertebral column, who was admitted to our hospital for elective caesarean section...
July 2009: Der Anaesthesist
https://www.readbyqxmd.com/read/18379460/-the-use-of-noben-for-correction-of-mitochondrial-disorders-in-friedrich-s-disease
#20
COMPARATIVE STUDY
M V Ershova, S N Illarioshkin, V S Sukhorukov
The results of treatment with noben (idebenon), an improved structural analogue of coenzyme Q10, of 34 patients with Friedrich's disease are presented. In all cases, the clinical diagnosis was confirmed by the presence of a typical mutation, an expansion of trinucleotide GAA-repeats, in the FRDA gene. All patients received noben as a main drug in dosage 5 mg/kg daily during 3 months. An examination of the patients included modern laboratory and instrumental methods, analysis of levels of lactic and pyruvic acids and their ratio in the peripheral blood...
2007: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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