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Fortschr Neurol Psychiatr 2018; 86(09): 559-565
DOI: 10.1055/a-0665-4593
Übersicht
© Georg Thieme Verlag KG Stuttgart · New York

Das Anti-IgLON5-Syndrom – Was ist unser aktueller Wissensstand?

Anti-IgLON5 syndrome – what is our current understanding?
Stephan Wenninger
Friedrich-Baur-Institut, Klinikum der Universität München
,
Benedikt Schoser
Friedrich-Baur-Institut, Klinikum der Universität München
› Author Affiliations
Further Information

Publication History

eingereicht 27 February 2018

akzeptiert 23 July 2018

Publication Date:
26 September 2018 (online)

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Corrected by:

ERRATUMFortschr Neurol Psychiatr 2018; 86(09): E1
DOI: 10.1055/a-0748-8465

Zusammenfassung

Das Anti-IgLON5-Syndrom wurde erstmals 2014 anhand eines Patienten mit REM und Non-REM-Parasomnie beschrieben. Seitdem hat sich das klinische Spektrum um diese Erkrankung stetig erweitert. Neben den schlafassoziierten Störungen kommen bei diesen Patienten regelmäßig Hirnstammsyndrome, autonome und neuropsychiatrische Symptome sowie seltener periphere Symptome wie Faszikulationen, Muskelkrämpfe und Neuromyotonie vor. Aufgrund gesehener Tau-Ablagerungen in spezifischen ZNS-Regionen wird derzeit von einer IgLON5-vermittelten Neurodegeneration im Sinne einer Tauopathie ausgegangen, was diesem Antikörper in pathophysiologischer Hinsicht eine Sonderstellung einbringt. Es besteht eine auffällige Assoziation mit den HLA-Allelen DQB1 * 05: 01 und DRB1 * 10: 01. Unter den derzeit verfügbaren Therapien mittels Immunmodulation und Immunsuppression konnte bisher nur ein geringer Benefit erreicht werden und die Mortalität ist bei später Diagnosestellung hoch. Dieser Artikel gibt einen Überblick über den Pathomechanismus, die klinische Symptomatik sowie Empfehlungen für Diagnostik und Therapie.

Abstract

In 2014, antibodies against the cell surface protein IgLON5 were first described in patients with a complex neurological syndrome of sleep disturbances and movement disorders. Since then, the clinical spectrum has steadily expanded and now includes brainstem syndromes, autonomic and neuropsychiatric disorders and, more rarely, peripheral symptoms such as fasciculations and neuromyotonia. Anti-IgLON5 antibodies are thought to cause neurodegeneration in specific CNS regions with tau deposits (“tauopathy”). There is a clear association with the HLA alleles DQB1*05:01 and DRB1*10:01. Anti-IgLON5 antibodies have been identified with a prevalence of 12 in 150,000 patients per year, but the estimated number of unreported patients might be much higher. Current therapeutic options include immunomodulation and immunosuppression; however, the clinical response remains poor and the mortality continues to be high. The unsatisfactory response seems to be related to a pathogenic mechanism that is still enigmatic, and as well to the delayed start of treatment in most cases. This review summarizes the current opinion on the pathogenic mechanism, clinical presentation and recommendations for diagnostics and therapy.

Schlüsselwörter

IgLON5 - Parasomnie - Dysphagie - Neuromyotonie - Bewegungsstörung - schlafassoziierte Atemstörung

Key words

IgLON5 - Parasomnia - Dysphagia - Neuromyotonia - Sleep disordered breathing - Movement disorder
 

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