• Rev Neurol France · Oct 2013

    Review Comparative Study

    Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: molecular similarities and differences.

    • M Neumann.
    • Department of Neuropathology, University of Tübingen, Calwerstr 3, 72076 Tübingen, Germany; DZNE, German Center for Neurodegenerative Diseases, Paul-Ehrlich-Str. 15-17, 72076 Tübingen, Germany. Electronic address: Manuela.Neumann@dzne.de.
    • Rev Neurol France. 2013 Oct 1; 169 (10): 793-8.

    AbstractIn the last years, new disease proteins and genes have been identified in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), leading to a dramatic shift in our understanding of the molecular mechanisms underlying both conditions. The vast majority of FTLD and ALS are characterized by the abnormal accumulation of TDP-43, including genetic forms associated with mutations in the genes C9ORF72, GRN, TARDBP and VCP. The overlap in pathology and of genetic factors, particularly C9ORF72 as common cause of ALS and FTLD, provides molecular evidence that both conditions represent a spectrum of diseases sharing similar pathomechanisms. Accumulation of the protein FUS defines another subset of FTLD and ALS. However, here some striking differences have been identified. All members of the FET family (FUS, EWS, TAF15) are co-accumulating with their nuclear import receptor Transportin in FTLD-FUS which is usually not associated with FUS mutations, whilst ALS-FUS is almost always associated with FUS mutations and reveals only FUS aggregates. Together with recent data demonstrating differences in the arginine methylation status of FUS in FTLD-FUS and ALS-FUS, these findings strongly imply at least partially distinct underlying disease mechanisms in these molecular subtypes of ALS and FTLD. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

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