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Frontotemporal lobar degeneration

Definition:

Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated with TDP-43 inclusions. The CHMP2B mutations are associated with ubiquitin-positive pathology.

References:

[1]. Benjamin Falcon, et al. Structures of filaments from Pick's disease reveal a novel tau protein fold. Nature. 2018 Sep;561(7721):137-140. [Content Brief]

[2]. Keith A Josephs, et al. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol. 2007 Feb;66(2):142-51. [Content Brief]

[3]. Manuela Neumann, et al. The molecular basis of frontotemporal dementia. Expert Rev Mol Med. 2009 Jul 29;11:e23. [Content Brief]

[4]. Miguel A Riudavets, et al. Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation. Brain Pathol. 2013 Sep;23(5):595-600. [Content Brief]

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