Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

Abstract Background In this paper, we describe the clinical and neuropathological findings of nine members of the Belgian progranulin gene (GRN) founder family. In this family, the loss-of-function mutation IVS1 + 5G > C was identified in 2006. In 2007, a clinical description of the mutation carr...

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Bibliographic Details
Main Authors: Anne Sieben, Sara Van Mossevelde, Eline Wauters, Sebastiaan Engelborghs, Julie van der Zee, Tim Van Langenhove, Patrick Santens, Marleen Praet, Paul Boon, Marijke Miatton, Sofie Van Hoecke, Mathieu Vandenbulcke, Rik Vandenberghe, Patrick Cras, Marc Cruts, Peter Paul De Deyn, Christine Van Broeckhoven, Jean-Jacques Martin
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Alzheimer’s Research & Therapy
Subjects:
Frontotemporal lobar degeneration
FTLD
FTD-GRN
FTLD-TDP
Frontotemporal dementia
FTD
Online Access:http://link.springer.com/article/10.1186/s13195-017-0334-y

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http://link.springer.com/article/10.1186/s13195-017-0334-y

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