Acta Neuropathologica

, Volume 114, Issue 1, pp 39–47

Progranulin and frontotemporal lobar degeneration

Review

DOI: 10.1007/s00401-007-0241-6

Cite this article as:
Pickering-Brown, S.M. Acta Neuropathol (2007) 114: 39. doi:10.1007/s00401-007-0241-6

Abstract

Frontotemporal lobar degeneration is the term used to describe the non-Alzheimer clinical syndromes of frontotemporal dementia, semantic dementia and progressive non-fluent aphasia, regardless of the underlying neuropathological features. Considerable progress has been made in recent years in our understanding of the aetiology of this disorder, notably the identification of mutations in tau and progranulin genes, both on chromosome 17q21. Mutations in tau appear to affect the ability of tau to bind microtubules and/or increase this protein’s ability to form fibrils. In contrast, progranulin mutations cause haploinsufficiency leading to TDP-43 accumulation. These genes collectively account for 10–20% of FTLD. However, it is clear that much remains to be discovered before our knowledge of this heterogeneous condition is complete.

Keywords

Frontotemporal lobar degeneration MAPT Tau Progranulin CHMP2B TDP-43 

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  1. 1.Division of Regenerative Medicine, Stopford BuildingUniversity of ManchesterManchesterUK

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