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Springer (part of Springer Nature), Acta Neuropathologica, 3(128), p. 397-410

DOI: 10.1007/s00401-014-1298-7

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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Journal article published in 2014 by Jennifer Müller vom Hagen, T. van Langenhove, P. van Damme, Julie van der Zee, Radoslav Matěj, Tim Van Langenhove, M. van den Broeck, Katrien Smets, Philip Van Damme, Céline Merlin, Annelies Laureys, Gábor Geza Kovács ORCID, Marleen Van Den Broeck, Maria Mattheijssens, Karin Peeters and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 German individuals (total n = 3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations were absent in the control individuals (carrier frequency