Untersuchung somatischer Chromosomenveränderungen bei amyotropher Lateralsklerose Juliane Christin Wappler WidmungVorwort 111231.1451.2621#328678910111.31222.112132.2142.32.4152.5624#5492.616624#1782.717617#3861833.1181920620#502620#474213.222624#48523621#37824625#4063.325622#58926618#34227625#50828618#33029618#4093.43031622#464431324.14.23334354.3364.44.53738394041 Abkürzungsverzeichnis Literaturverzeichnis Danksagung Eidesstattliche Erklärung deInhaltsverzeichnisHilfe Literaturverzeichnis Almer G, Guegan C, Teismann P, Naini A, Rosoklija G, Hays AP, Chen C, Przedborski S: Increased expression of the pro-inflammatory enzyme cyclooxygenase-2 in amyotrophic lateral sclerosis. Annals of neurology 2001; 49(2):176-185. Barch MJ: The ACT ,Cytogenetics Laboratory Manual 2, New York Raven Press 1991. Barzilai A, Yamamoto KDNA: Damage responses to oxidative stress. DNA repair 2004; 3: 1109-1115. Bensimon G, Lacomblez L, Meininger VA: Controlled trial of Riluzole an amypthrophic lateral sclerosis. ALS/Riluzole Study Group. New English Journal of Medicine 1994; 330(9):636-637. Bickmore WA, Teague P: Influences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population. Chromosome research 2002; 10:707-715. Bogdanov M et al.: Increased oxidative damage to DNA in ALS-Patients. Free radical biology & medicine 2000; 29 (7): 652-658. Brooks BR: El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. Journal of Neurological Science 1994; 124: 96-107. Caldecott KW: DNA single-strand breakage and neurodegeneration. DNA repair 2004; 3: 875-882. Cleveland JL: A new piece of the ALS puzzle. Nature Genetics 2003; 34(4):357-358. Delank HW., Gehlen W: Neurologie 8.Auflage, Enke 1999. Desnuelle C, Dib M, Garrel C, Favier A: A double-blind, placebo-controlled randomized clinical trial of alfa-tocopherol (vitamin E) in the treatment of ALS. ALS riluzole-tocophenol Study Group. ALS and other Motor Neuron Disorders 2001; 2(1):9-18. Facchinetti F, Dawson VL, Dawson TM: Free radicals as mediator of neuronal
injury. Cellular and Molecular Neurobiology 1998; 18 (6):667-682. Graf M et al.: High dose vitamin E therapy in ALS as add-on therapy to riluzol:
results of a placebo-controlled double-blind study. Journal of neural transmission 2005; 112(5):649-660. Heath PR, Shaw PJ: Update on the glutamatergic neurotransmitter system and the role of excitotoxicity in ALS. Muscel and Nerve 2002; 26:438-458. Hugon J: Riluzole and ALS therapy. Wiener medizinische Wochenschrift 1996; 146 (9-10):185-187. Mitelman F: An international System for Human Cytogenetic Nomenclature. Basel S.Karger 1995 Kaneko K, Saito F, Sunohara N, Ikeuchi T: Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis. Clinical genetics 1995; 47(3):158-160. Martin LJ: p53 is abnormally elevated and activated in the CNS of patients with amyotrophic lateral sclerosis. Neurobiological Dissertations 2000; 7:613-622. Mathur R, Cowdhury MR, Singh G: Recent advances in chromosome breakage syndromes and their diagnosis. Indian pediatrics 2000; 37(6): 615-625. Meyer T et al.: High rate of constitutional chromosomal rearrangements in apparently sporadic ALS. Neurology 2003; 60: 1348-1350. Migliore 2002 Migliore BS, Petrozzi L, Lucetti C, Gambaccini G, Bernardini S, Scarpato R, Trippi F, Barale R, Frenzilli G, Rodilla V, Bonuccelli U: Oxidative damage and cytogenetic analysis in leukocytes of Parkinson's disease patients. Neurology 2002; 58:1809-1815. Neundörfer B.: Praxis der Amyotrophen Lateralsklerose. 1. Auflage, Bremen 2002. Rolig RL, Mckinnon PJ: Linking DNA damage and neurodegeneration. Trends in Neuroscience 2000; 23: 417-424. Rosen DR et al.: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362(6415): 20-21. Sathasivam S, Ince PG, Shaw PJ: Apoptosis in ALS: a review of the evidence. Neuropathology and applied neurobiology 2001; 27 2: 57-274. Schmidt R.F., Thews G: Physiologie des Menschen. 28. Auflage,

Berlin

2000. Seyffert W, Gassen HG, Hess O, Jäckle H, Fischbach K-F: Lehrbuch der Genetik.

Ulm

1998. Shaikh AY, Martin LJ: DNA base-excision repair enzyme apurinic/apyrimidinic endonuclease/redox factor-1 is increased and competent in the brain and spinal cord of individuals with ALS. Neuromolecular Medicine 2002; 2 (1):47-60. Shaw PJ, Eggett CJ: Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis. Journal of Neurology 2000; 247:17-27. Sperling K, Neitzel H: Chromosomopathien. Ganten, Ruckpaul: Handbuch der molekularen Medizin. Monogen bedingte Erbkrankheiten, Teil 2

Berlin

2000, S.43-77. Sperling K, Neitzel H: Zytogenetische Grundlagen der molekularen Medizin. Ganten, Ruckpaul: Grundlagen der molekularen Medizin2.

Berlin

2003, S.54-88. Tateno M et al.: Calcium-permeable AMPA receptores promote misfolding of mutant SOD1 protein and development of ALS in a transgenic mouse model. Human Molecular Genetic 2004; 13(19):2183-96. Therman E, Susman M: Human Chromsomes. Structure, behavior and effects. 3rd edition,

New York

1993. Tönnies H: Modern molecular cytogenetic techniques in genetic diagnostic. Trends in molecular medicine 2002; 8: 246-250. Uberti D, Toninelli GF, Memo M: Invovement of DNA damage and repair systems in neurodegenerative process. Toxycology letters 2003; 139:99-105. Ulitzkaja L: Ein fröhliches Begräbnis. Roman. 2.Auflage,

Berlin

2003, S.59. Venter JC et al.: The sequence of the human genome. Science 2001; 291 (5507 ):1304-1351. Wong PC et al.: An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterizd by vacuolar degeneration of mitochondria. neuron 1995; 14(6): 1105-1116. Zhu X et al.: Oxidative stress signalling in Alzheimer's disease. Brain research 2004; 1000:32-39.