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J Mol Neurosci. 2011 Nov;45(3):516-21. doi: 10.1007/s12031-011-9555-x. Epub 2011 May 26.

TMEM106B a novel risk factor for frontotemporal lobar degeneration.

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1
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.

Abstract

Recently, the first genome-wide association (GWA) study in frontotemporal lobar degeneration (FTLD) identified common genetic variability at the TMEM106B gene on chromosome 7p21.3 as a potential important risk-modifying factor for FTLD with pathologic inclusions of TAR DNA-binding protein (FTLD-TDP), the most common pathological subtype in FTLD. To gather additional evidence for the implication of TMEM106B in FTLD risk, multiple replication studies in geographically distinct populations were set up. In this review, we revise all recent replication and follow-up studies of the FTLD-TDP GWA study and summarize the growing body of evidence that establish TMEM106B as a bona fide risk factor for FTLD. With the TMEM106B gene, a new player has been identified in the pathogenic cascade of FTLD which could hold important implications for the future development of disease-modifying therapies.

PMID:
21614538
PMCID:
PMC3207134
DOI:
10.1007/s12031-011-9555-x
[Indexed for MEDLINE]
Free PMC Article
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