ALS and Frontotemporal Dementia - Case Report and Review of the Literature

作者：Nass R D^*; Meister I G; Haupt W F; Fink G R

来源：Fortschritte der Neurologie - Psychiatrie, 2012, 80(12): 711-719.

DOI：10.1055/s-0032-1325604

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

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.

• 出版日期2012-12