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Novel Progranulin Mutation Detected in 2 Patients With FTLD.

Authors :
Skoglund, Lena
Matsui, Toshifumi
Freeman, Stefanie H.
Wallin, Anders
Blom, Elin S.
Frosch, Matthew P.
Growdon, John H.
Hyman, Bradley T.
Lannfelt, Lars
Ingelsson, Martin
Glaser, Anna
Source :
Alzheimer Disease & Associated Disorders; Apr-Jun2011, Vol. 25 Issue 2, p173-178, 6p
Publication Year :
2011

Abstract

The article presents a study which investigates the progranulin gene (PGRN) mutation in patients with frontotemporal lobar degeneration (FTLD). It says that PGRN mutation accounts for ubiquitin-positive frontotemporal dementias (FTD) in which it introduces premature termination in the PGRN mRNA sequence. The study shows that genetic analysis of FTLD patients reveals a novel PGRN frameshift mutation and reduction of PGRN mRNA.

Details

Language :
English
ISSN :
08930341
Volume :
25
Issue :
2
Database :
Supplemental Index
Journal :
Alzheimer Disease & Associated Disorders
Publication Type :
Academic Journal
Accession number :
61407491
Full Text :
https://doi.org/10.1097/WAD.0b013e3181fbc22c