Abstract | BACKGROUND/AIMS: METHODS: Gene dosage analysis of PGRN and MAPT was performed using multiplex ligation-dependent probe amplification. RESULTS: We did not identify any PGRN or MAPT gene dosage variations in the 39 FTLD patients investigated. CONCLUSION: We therefore conclude that alterations in gene copy number of PGRN and MAPT are not a cause of disease in this collection of FTLD patients.
|
Authors | Lena Skoglund, Sofie Ingvast, Toshifumi Matsui, Stefanie H Freeman, Matthew P Frosch, Rosemarie Brundin, Vilmantas Giedraitis, John H Growdon, Bradley T Hyman, Lars Lannfelt, Martin Ingelsson, Anna Glaser |
Journal | Dementia and geriatric cognitive disorders
(Dement Geriatr Cogn Disord)
Vol. 28
Issue 5
Pg. 471-5
( 2009)
ISSN: 1421-9824 [Electronic] Switzerland |
PMID | 19940479
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | Copyright 2009 S. Karger AG, Basel. |
Chemical References |
- GRN protein, human
- Intercellular Signaling Peptides and Proteins
- MAPT protein, human
- Progranulins
- tau Proteins
|
Topics |
- Frontotemporal Lobar Degeneration
(genetics)
- Gene Deletion
- Gene Dosage
- Gene Duplication
- Humans
- Intercellular Signaling Peptides and Proteins
(genetics)
- Nucleic Acid Amplification Techniques
- Progranulins
- tau Proteins
(genetics)
|