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Fortschr Neurol Psychiatr 2012; 80(12): 711-719
DOI: 10.1055/s-0032-1325604
Kasuistik
© Georg Thieme Verlag KG Stuttgart · New York

ALS und frontotemporale Demenz – Fallbericht und Literaturübersicht

ALS and Frontotemporal Dementia –
Case Report and Review of the Literature
R. D. Nass
1   Klinik für Epileptologie, Universitätsklinik Bonn
,
I. G. Meister
2   Klinik und Poliklinik für Neurologie, Uniklinik Köln
,
W. F. Haupt
2   Klinik und Poliklinik für Neurologie, Uniklinik Köln
,
G. R. Fink
2   Klinik und Poliklinik für Neurologie, Uniklinik Köln
› Author Affiliations
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Publication History

Publication Date:
10 December 2012 (online)

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Zusammenfassung

Das Auftreten kognitiver Einschränkungen bei der amyotrophen Lateralsklerose (ALS), vor allem in Form einer frontotemporalen Demenz (FTD), ist seit längerer Zeit bekannt. Molekularbiologische und histopathologische Erkenntnisse der letzten Jahre ergeben Hinweise darauf, dass ALS und FTD gemeinsame pathologische Mechanismen haben und verschiedene Phänotypen derselben Proteinopathie darstellen könnten. Der zugrunde liegende Pathomechanismus könnte eine fehlerhafte RNA- und DNA-Modulation sein, vermittelt unter anderem durch die Proteine TDP43 und FUS. Diese Ergebnisse haben zur Beschreibung der neuen Kategorie der TDP43-Proteinopathien geführt, zu welcher neben der ALS und der FTD auch kombinierte Krankheitsbilder zählen. Während knapp die Hälfte der FTD-Fälle mit TDP43-Ablagerungen assoziiert ist, finden sich bei der anderen Hälfte Tau-Ablagerungen. Auch hier bestehen klinische Überlappungen zu anderen Tauopathien, z. B. dem corticobasalen Syndrom. Ausgehend von einem Fallbeispiel geben wir einen Überblick über das klinische Spektrum und die aktuellen pathogenetischen Konzepte der FTD.

Abstract

The occurrence of cognitive decline in amyotrophic lateral sclerosis (ALS), especially in the form of frontotemporal dementia (FTD), has been described previously. Recent molecular biology and histopathology data suggest that both ALS and FTD may share common pathological pathways and may present two phenotypes of the same proteinopathy. The underlying pathophysiological mechanism may be defective RNA- and DNA-modulation, mediated by the proteins TDP43 and FUS. These findings are suggestive of a new disease category of TDP43-proteinopathies, which include ALS, FTD and overlap syndromes. While about half of the FTD cases are associated with TDP43-deposits, tau is found in the other half. A significant clinical overlap to other tauopathies exists here as well, for instance with corticobasal degeneration. In this paper, we present a case report and review the clinical spectrum and current pathogenetic concepts of FTD.

Schlüsswörter

amyotrophe Lateralsklerose (ALS) - frontotemporale Demenz (FTD) - frontotemporale Lobärdegeneration (FTLD) - TDP43 - FUS - ALS

Key words

amyotrophic lateral sclerosis (ALS) - frontotemporal dementia (FTD) - frontotemporal lobar degeneration (FTLD) - TDP43 - FUS - ALS
 

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