Zusammenfassung
Bei der amyotrophen Lateralsklerose (ALS) kombinieren sich die Läsion der Betz-Zellen des motorischen Kortex und der Pyramidenbahn (des ersten Motoneurons), sowie der motorischen Vorderhornzellen (des zweiten Motoneurons). Dieses Degenerationsmuster erkannte der Erstbeschreiber der ALS, der französische Neurologe Jean-Martin Charcot, als pathognomonisch und stellte die bei seinen pathologisch-anatomischen Untersuchungen der ALS erhobenen Befunde zeichnerisch dar. Heute ist bekannt, dass die ALS dem Konzept einer Multisystemdegeneration unterzuordnen ist, die systematisch in neuroanatomisch definierten Stadien primär das zentrale Nervensystem erfasst. Die Ursachen der Erkrankungen der Motoneurone sind weitgehend unbekannt, und das Verständnis ihrer genetischen Grundlagen, der Pathogenese und die Entwicklung von Behandlungsansätzen stehen erst am Anfang.
Literatur
Agosta F, Al-Chalabi A, Filippi M et al (2015) The El Escorial criteria: strengths and weaknesses. Amyotroph Lateral Scler Other Motor Neuron Disord 16:1–7
Al-Chalabi A, Fang F, Hanby MF et al (2010) An estimate of amyotrophic lateral sclerosis heritability using twin data. J Neurol Neurosurg Psychiatry 81(12):1324–1326
Böhm S, Aho-Özhan HE, Keller J et al (2016) Medical decisions are independent of cognitive impairment in amyotrophic lateral sclerosis. Neurology 87(16):1737–1738. Epub 2016 Sep 24
Braak H, Brettschneider J, Ludolph AC et al (2013) Amyotrophic lateral sclerosis--a model of corticofugal axonal spread. Nat Rev Neurol 9(12):708–714
Brettschneider J, Del Tredici K, Toledo JB et al (2013) Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. Ann Neurol 74(1):20–38
Brooks BR, Miller RG, Swash M, Munsat TL (2000) World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:293–299
Caparros-Lefebvre D, Sergeant N, Lees A et al (2002) Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy. Brain 125:801–811
DiPALS Writing Committee; DiPALS Study Group Collaborators (2015) Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. Lancet Neurol 14(9):883–892
Dorst J, Kühnlein P, Hendrich C, Kassubek J, Sperfeld AD, Ludolph AC (2011) Patients with elevated triglyceride and cholesterol serum levels have a prolonged survival in amyotrophic lateral sclerosis. J Neurol 258(4):613–617
Dorst J, Dupuis L, Petri S et al (2015) Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: a prospective observational study. J Neurol 262(0):849–858. Epub 2015 Jan 25
Dupuis L, Corcia P, Fergani A et al (2008) Dyslipidemia is a protective factor in amyotrophic lateral sclerosis. Neurology 70:1004–1009
Eisen A, Braak H, Del Tredici K, Lemon R, Ludolph AC, Kiernan MC (2017) Cortical influences drive amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 88(11):917–924. https://doi.org/10.1136/jnnp-2017-315573. Epub 2017 Jul 14
Gorges M, Vercruysse P, Müller HP et al (2017) Hypothalamic atrophy is related to body mass index and age at onset in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 88(12):1033–1041. https://doi.org/10.1136/jnnp-2017-315795. Epub 2017 Jun 8
Hübers A, Hildebrand V, Petri S et al (2016) Clinical features and differential diagnosis of flail arm syndrome. J Neurol 263:390–395
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C, Ludolph AC, Volk AE (2015) De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol Aging. 36(11):3117.e1-3117.e6
Kolde G, Bachus R, Ludolph AC (1996) Cutaneous involvement in amyotrophic lateral sclerosis. Lancet 347:1226–1227
Kühnlein P, Gdynia HJ, Sperfeld AD, Lindner-Pfleghar B, Ludolph AC, Prosiegel M, Riecker A (2008) Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis. Nat Clin Pract Neurol 4:366–374
Lacomblez L, Bensimon G, Leigh PN, Guillet P, Meininger V (1996) Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet 347(9013):1425–1431
Ludolph A (2017) Edoravone: a baby in the bathwater? Ther Adv Neurol Disord 10:313–314
Ludolph AC, Schuster J, Dorst J, Dupuis L, Dreyhaupt J, Weishaupt JH, Kassubek J, Weiland U, Petri S, Meyer T, Grosskreutz J, Schrank B, Boentert M, Emmer A, Hermann A, Zeller D, Prudlo J, Winkler AS, Grehl T, Heneka MT, Wollebæk JS, Göricke B, RAS-ALS Study Group (2018) Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial. Lancet Neurol 17(8):681–688
Ludolph AC, Langen KJ, Regard M et al (1992) Frontal lobe function in amyotrophic lateral sclerosis – a neuropsychologic and positron emission tomography study. Acta Neurol Scand 85:81–89
Ludolph AC, Drory V, Hardiman O, Nakano I, Ravits J, Robberecht W, Shefner J, WFN Res Grp ALS MND (2015) A revision of the El Escorial criteria-2015. Amyotroph Lateral Scler Frontotemporal Degener 16(5–6):291–292
Ludolph AC, Dietrich J, Kassubek J, Emilian S, Braak H, Del Tredici K. A study of paresis patterns in ALS – clinical evidence for a primary cortical disease. Under review
Lule D, Böhm S, Müller HP et al (2018) Cognitive phenotypes of sequential staging in amyotrophic lateral sclerosis. Cortex 101:163–171
Müller K, Brenner D, Weydt P et al (2018) A comprehensive analysis of the mutation spectrum in 301 German ALS families. J Neurol Neurosurg Psychiatry. https://doi.org/10.1136/jnnp-2017-317611
Oeckl P, Steinacker P Feneberg E, Otto M (2016) Neurochemical biomarkers in the diagnosis of frontotemporal lobar degeneration: an update. J Neurochem 138(Suppl 1):184–192
Rosen DR, Siddique T, Pattersson D et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62
Rosenbohm A, Peter RS, Erhardt S et al (2017) Epidemiology of amyotrophic lateral sclerosis in Southern Germany. J Neurol 264(4):749–757
Rosenbohm A, Liu M, Nagel G et al (2018) Phenotypic differences of amyotrophic lateral sclerosis (ALS) in China and Germany. J Neurol 265:774–782
Seljeseth Y, Stein E, Vollset S, Tysnes O (2000) Increasing mortality from amyotrophic lateral scerlosis in Norway. Neurology 55:1262–1266
Steinacker P, Feneberg E, Weishaupt J et al (2016) Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients. J Neurol Neurosurg Psychiatry 87(1):12–20
Süssmuth SD, Sperfeld AD, Ludolph AC, Tumani H (2010) Hypercapnia is a possible determinant of the function of the blood-cerebrospinal fluid barrier in amyotrophic lateral sclerosis. Neurochem Res 35(7):1071–1074
Talbot PR, Goulding PJ, Lloyd JJ, Snowden JS, Neary D, Testa HJ (1995) Interrelation between „classic” motor neuron disease and frontotemporal dementia: neuropsychological and single photon emission computed tomography study. J Neurol Neurosurg Psychiatry 58:541–547
Vercruysse P, Sinniger J, El Oussini H et al (2016) Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis. Brain 139:1106–1122
Wais V, Rosenbohm A, Petri S et al (2017) The concept and diagnostic criteria of primary lateral sclerosis. Acta Neurol Scand 136:204–211
Weydt P, Oeckl P, Huss A et al (2016) Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis. Ann Neurol 79(1):152–158
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature
About this entry
Cite this entry
Ludolph, A.C. (2018). Amyotrophe Lateralsklerose (ALS). In: Berlit, P. (eds) Klinische Neurologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44768-0_75-1
Download citation
DOI: https://doi.org/10.1007/978-3-662-44768-0_75-1
Received:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-44768-0
Online ISBN: 978-3-662-44768-0
eBook Packages: Springer Referenz Medizin