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Citation
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HERO ID
7398456
Reference Type
Journal Article
Subtype
Review
Title
Progranulin and frontotemporal lobar degeneration
Author(s)
Pickering-Brown, SM
Year
2007
Is Peer Reviewed?
Yes
Journal
Acta Neuropathologica
ISSN:
0001-6322
EISSN:
1432-0533
Volume
114
Issue
1
Page Numbers
39-47
Language
English
PMID
17572900
DOI
10.1007/s00401-007-0241-6
Web of Science Id
WOS:000247633500005
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.
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