Progranulin and frontotemporal lobar degeneration.

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.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Pickering-Brown SM

doi

10.1007/s00401-007-0241-6

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

39-47

issue

1

eissn

0001-6322

issn

1432-0533

journal_volume

114

pub_type

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