The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.
Genetic contribution of FUS to frontotemporal lobar degeneration.
T Van Langenhove; J van der Zee; K Sleegers; S Engelborghs; R Vandenberghe; I Gijselinck; M Van den Broeck; M Mattheijssens; K Peeters; P P De Deyn; et al. (Profiled Author: Van Broeckhoven, Christine)
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
BACKGROUND: Recently, the FUS gene was identified as a new causal gene for amyotrophic lateral sclerosis (ALS) in approximately 4% of patients with familial ALS. Since ALS and frontotemporal lobar degeneration (FTLD) are part of a clinical, pathologic, and genetic disease spectrum, we investigated a potential role of FUS in FTLD. METHODS: We performed mutational analysis of FUS in 122 patients with FTLD and 15 patients with FTLD-ALS, as well as in 47 patients with ALS. Mutation screening was performed by sequencing of PCR amplicons of the 15 FUS exons. RESULTS: We identified 1 patient with FTLD with a novel missense mutation, M254V, that was absent in 638 control individuals. In silico analysis predicted this amino acid substitution to be pathogenic. The patient did not have a proven family history of neurodegenerative brain disease. Further, we observed the known R521H mutation in 1 patient with ALS. No FUS mutations were detected in the patients with FTLD-ALS. While insertions/deletions of 2 glycines (G) were suggested to be pathogenic in the initial FUS reports, we observed an identical GG-deletion in 2 healthy individuals and similar G-insertions/deletions in 4 other control individuals, suggesting that G-insertions/deletions within this G-rich region may be tolerated. CONCLUSIONS: In a first analysis of FUS in patients with frontotemporal lobar degeneration (FTLD), we identified a novel FUS missense mutation, M254V, in 1 patient with pure FTLD. At this point, the biologic relevance of this mutation remains elusive. Screening of additional FTLD patient cohorts will be needed to further elucidate the contribution of FUS mutations to FTLD pathogenesis.
This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.
LEE, VIRGINIA M
15 March 2000 - 29 February 2016
NATIONAL INSTITUTE ON AGING
Total Funding: $ 21,445,858
Eva Bentmann; Manuela Neumann; Sabina Tahirovic; Ramona Rodde; Dorothee Dormann; Christian HaassThe Journal of biological chemistry 2012;287(27):23079-94.
Julien Couthouis; Michael P Hart; Renske Erion; Oliver D King; Zamia Diaz; Tadashi Nakaya; Fadia Ibrahim; Hyung-Jun Kim; Jelena Mojsilovic-Petrovic; Saarene Panossian; et al.Human molecular genetics 2012;21(13):2899-911.
William T Hu; John Q Trojanowski; Leslie M ShawProgress in neurobiology 2011;95(4):636-48.
Appears in this Publication
Author of this Publication