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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-53698

Mackenzie, I R A; Neumann, M; Cairns, N J; Munoz, D G; Isaacs, A M (2011). Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43. Journal of Molecular Neuroscience, 45(3):402-408.

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Most cases of frontotemporal lobar degeneration (FTLD) are characterized by the abnormal accumulation of either the microtubule-associated protein tau or the transactive response DNA-binding protein with M(r) 43 kDa, TDP-43 (FTLD-tau and FTLD-TDP, respectively). However, there remain ∼10% of cases, composed of a heterogenous collection of uncommon disorders, for which the molecular basis remains uncertain. In this review, we describe the characteristic genetic, clinical, and pathological features of the major tau/TDP-negative FTLD subtypes, with focus on recent advances in our understanding of their molecular basis. This includes the discovery that the pathological changes in atypical FTLD with ubiquitinated inclusions, neuronal intermediate filament inclusion disease, and basophilic inclusion body disease are immunoreactive for the fused in sarcoma (FUS) protein, resulting in the creation of a new molecular subgroup (FTLD-FUS), and studies clarifying the functional consequences of pathogenic CHMP2B mutations.


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Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Deposited On:07 Jan 2012 20:39
Last Modified:05 Apr 2016 15:17
Publisher DOI:10.1007/s12031-011-9551-1
PubMed ID:21603977

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