Download PDF
Fortschr Neurol Psychiatr 2013; 81(10): 592-604
DOI: 10.1055/s-0033-1350151
Fort- und Weiterbildung
© Georg Thieme Verlag KG Stuttgart · New York

Diagnostik und Therapie der amyotrophen Lateralsklerose (ALS)

Diagnostics and Therapy for Amyotrophic Lateral Sclerosis
T. Grehl
Further Information

Publication History

Publication Date:
30 September 2013 (online)

    Permissions and Reprints

Lernziele

Der vorliegende Beitrag befasst sich mit der Diagnostik und Therapie der amyotrophen Lateralsklerose (ALS). Ziel ist es, folgende Kenntnisse zu vermitteln:

  • Diagnostik und Klassifikation der ALS

  • neueste Fortschritte der genetischen Forschung

  • Empfehlungen zur Therapie und palliativmedizinische Aspekte

 

  • Literatur

  • 1 Lacomblez L et al. Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet 1996; 347: 1425-1431
    CrossrefPubMedGoogle Scholar
  • 2 Strong MJ. The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). J Neurol Sci 2010; 288: 1-12
    CrossrefPubMedGoogle Scholar
  • 3 Geser F et al. Evidence of Multisystem Disorder in Whole-Brain of Pathological TDP-43 in Amyotrophic Lateral Sclerosis. Arch Neurol 2008; 65: 636-641
    CrossrefPubMedGoogle Scholar
  • 4 Ikeda Y et al. Clinical features of SCA 36. Neurology 2012; 79: 33-341
    CrossrefPubMedGoogle Scholar
  • 5 Schreiber H et al. Cognitive function in bulbar- and spinal-onset amyotrophic lateral sclerosis. A longitudinal study in 52 patients. J Neurol 2005; 252: 772-781
    CrossrefPubMedGoogle Scholar
  • 6 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. J Neurol Sci 1994; 124 : Suppl: 96-107
    CrossrefPubMedGoogle Scholar
  • 7 Brooks BR et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293-299
    CrossrefPubMedGoogle Scholar
  • 8 Traynor BJ et al. Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study. Arch Neurol 2000; 57: 1171-1176
    CrossrefPubMedGoogle Scholar
  • 9 de Carvalho M et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008; 119: 497-503
    CrossrefPubMedGoogle Scholar
  • 10 Okita T et al. Can Awaji ALS criteria provide earlier diagnosis than the revised El Escorial criteria?. J Neurol Sci 2011; 302: 29-32
    CrossrefPubMedGoogle Scholar
  • 11 Schrooten M et al. Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: a prospective study. Ann Neurol 2011; 70: 79-83
    CrossrefPubMedGoogle Scholar
  • 12 Rosen DR et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59-62
    CrossrefPubMedGoogle Scholar
  • 13 Neumann M et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133
    CrossrefPubMedGoogle Scholar
  • 14 Arai T et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351: 602-611
    CrossrefPubMedGoogle Scholar
  • 15 Talbot K, Ansorge O. Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease. Hum Mol Genet 2006; 15 Spec No 2: R182-R187
    CrossrefPubMedGoogle Scholar
  • 16 Sreedharan J et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319: 1668-1672
    CrossrefPubMedGoogle Scholar
  • 17 Mackenzie IR et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007; 61: 427-434
    CrossrefPubMedGoogle Scholar
  • 18 Pesiridis GS, Lee VM, Trojanowski JQ. Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum Mol Genet 2009; 18: R156-R162
    CrossrefPubMedGoogle Scholar
  • 19 Igaz LM et al. Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice. J Clin Invest 2011; 121: 726-738
    CrossrefPubMedGoogle Scholar
  • 20 Chio A et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011; 68: 594-598
    CrossrefPubMedGoogle Scholar
  • 21 Vance C et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009; 323: 1208-1211
    CrossrefPubMedGoogle Scholar
  • 22 Neumann M et al. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 2009; 132: 2922-2931
    CrossrefPubMedGoogle Scholar
  • 23 Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 2010; 9: 995-1007
    CrossrefPubMedGoogle Scholar
  • 24 Deng HX et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011; 477: 211-215
    CrossrefPubMedGoogle Scholar
  • 25 Morris HR et al. Recent advances in the genetics of the ALS-FTLD complex. Curr Neurol Neurosci Rep 2012; 12: 243-250
    CrossrefPubMedGoogle Scholar
  • 26 Synofzik M et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 2012; 33 (12) 2949 e13-e17
    PubMedGoogle Scholar
  • 27 DeJesus-Hernandez M et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256
    CrossrefPubMedGoogle Scholar
  • 28 Brettschneider J et al. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 2012; 123: 825-839
    CrossrefPubMedGoogle Scholar
  • 29 Renton AE et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-268
    CrossrefPubMedGoogle Scholar
  • 30 Boeve BF et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012; 135: 765-783
    CrossrefPubMedGoogle Scholar
  • 31 Smith BN et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2013; 21: 102-108
    CrossrefPubMedGoogle Scholar
  • 32 Tsermentseli S, Leigh PN, Goldstein LH. The anatomy of cognitive impairment in amyotrophic lateral sclerosis: more than frontal lobe dysfunction. Cortex 2012; 48: 166-182
    CrossrefPubMedGoogle Scholar
  • 33 Blackhall LJ. Amyotrophic lateral sclerosis and palliative care: where we are, and the road ahead. Muscle Nerve 2012; 45: 311-318
    CrossrefPubMedGoogle Scholar
  • 34 Andersen PM, Abrahams S, Borasio GD et al. EFNS-guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force. Eur J Neurol 2012; 19: 360-375
    CrossrefPubMedGoogle Scholar
  • 35 Desnuelle C et al. A double-blind, placebo-controlled randomized clinical trial of alpha-tocopherol (vitamin E) in the treatment of amyotrophic lateral sclerosis. ALS and other motor neuron disorders 2001; 2: 9-18
    PubMedGoogle Scholar
  • 36 Verstraete E et al. Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial. J Neurol Neurosurg Psychiatry 2012; 83: 557-564
    CrossrefPubMedGoogle Scholar
  • 37 Pastula DM, Moore DH, Bedlack RS. Creatine for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev 2010; 6: CD005225
    PubMedGoogle Scholar
  • 38 Talmi YP, Finkelstein Y, Zohar Y. Reduction of salivary flow in amyotrophic lateral sclerosis with Scopoderm TTS. Head Neck 1989; 11: 565
    CrossrefPubMedGoogle Scholar
  • 39 Gilio F et al. Botulinum toxin type A for the treatment of sialorrhoea in amyotrophic lateral sclerosis: a clinical and neurophysiological study. Amyotroph Lateral Scler 2010; 11: 359-363
    CrossrefPubMedGoogle Scholar
  • 40 Bach JR, Ishikawa Y, Kim H. Prevention of pulmonary morbidity for patients with Duchenne muscular dystrophy. Chest 1997; 112: 1024-1028
    CrossrefPubMedGoogle Scholar
  • 41 Windisch W et al. Non-invasive and invasive mechanical ventilation for treatment of chronic respiratory failure. S2-Guidelines published by the German Medical Association of Pneumology and Ventilatory Support. Pneumologie 2010; 64: 207-240
    Article in Thieme ConnectPubMedGoogle Scholar
  • 42 Newall AR, Orser R, Hunt M. The control of oral secretions in bulbar ALS/MND. J Neurol Sci 1996; 139 : Suppl: 43-44
    CrossrefPubMedGoogle Scholar
  • 43 Bourke SC et al. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet Neurol 2006; 5: 140-147
    CrossrefPubMedGoogle Scholar
  • 44 Meyer T et al. Elective termination of respiratory therapy in amyotrophic lateral sclerosis. Nervenarzt 2008; 79: 684-690
    CrossrefPubMedGoogle Scholar
  • 45 Miller RG et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2009; 73: 1227-1233
    CrossrefPubMedGoogle Scholar
  • 46 Miller RG et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2009; 73: 1218-1226
    CrossrefPubMedGoogle Scholar
  • 47 Traynor BJ et al. Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996–2000. J Neurol Neurosurg Psychiatry 2003; 74: 1258-1261
    CrossrefPubMedGoogle Scholar