Der Nervenarzt

, Volume 76, Issue 6, pp 690–700 | Cite as

Die Rolle des Immunsystems bei hereditären demyelinisierenden Neuropathien

Übersichten
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Zusammenfassung

Hereditäre demyelinisierende Neuropathien sind monogenetisch bedingte, chronisch progrediente Polyneuropathien, die zu stark behindernden motorischen und sensiblen neurologischen Ausfällen führen. Die überwiegende Mehrzahl der Fälle wird durch eine Duplikation des Myelingens PMP22 verursacht. Andere betroffene Myelingene sind das P0-Gen und das Gen für das „gap-junction protein“ Connexin 32 (Cx32). Spontane und gentechnisch hergestellte Myelinmutanten sind daher für die Untersuchung hereditärer Neuropathien von großem Wert. Die Mutanten entsprechen hinsichtlich ihres histopathologischen Phänotyps der humanen Erkrankung und stellen somit adäquate Tier-Modelle für verschiedene Formen hereditärer Neuropathien dar. Jüngste Untersuchungen an diesen Tier-Modellen zeigen, dass die Pathogenese hereditärer Neuropathien entscheidend durch das Immunsystem beeinflusst wird. Aufgrund der mophologischen Gemeinsamkeiten zwischen Charcot-Marie-Tooth-Patienten und den entsprechenden Maus-Modellen ist die Rolle des Immunsystems auch bei humanen Erkrankungen von großem Interesse. Mit dieser Übersicht soll anhand einer zusammenfassenden Gegenüberstellung tierexperimenteller und humaner klinischer Daten die Rolle des Immunsystems bei hereditären Neuropathien erörtert werden.

Schlüsselwörter

Hereditäre Neuropathien Immunsystem Myleinproteine Tier-Modelle 

The role of the immune system in hereditary neuropathies

Summary

Hereditary neuropathies, e.g., Charcot-Marie-Tooth (CMT) disease, are inherited diseases of the peripheral nervous system causing chronic progressive motor and sensory dysfunction. Most neuropathies are due to mutations in myelin genes such as PMP22, P0, and the gap junction protein Cx32. Myelin mutant mice are regarded as suitable animal models for several forms of hereditary neuropathies and are important neurobiological tools for the evaluation of pathogenetic and therapeutic concepts in hereditary neuropathies. Using these animal models we could recently show that the immune system is involved in the pathogenesis of hereditary neuropathies. Due to the phenotypic similarities we also consider the immune system important for human inherited neuropathies, in particular since several case reports demonstrate a beneficial effect of immune therapies in patients with hereditary neuropathies. In this review we compare findings from animal models and human disease to elucidate the role of the immune system in hereditary neuropathies.

Keywords

Hereditary neuropathies Immune system Myelin proteins Animal models 
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Copyright information

© Springer Medizin Verlag 2004

Authors and Affiliations

  1. 1.Neurologische Universitätsklinik Würzburg
  2. 2.Neurologische Universitätsklinik WürzburgWürzburgDeutschland

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