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No Evidence of PGRN or MAPT Gene Dosage Alterations in a Collection of Patients with Frontotemporal Lobar Degeneration
Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden.
Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden.
Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA.
Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA.
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2009 (English)In: Dementia and Geriatric Cognitive Disorders, ISSN 1420-8008, E-ISSN 1421-9824, Vol. 28, no 5, 471-475 p.Article in journal (Refereed) Published
Abstract [en]

Background/Aims: Alterations in gene dosage have recently been associated with neurodegenerative disorders, such as Alzheimer’s disease and Parkinson’s disease, and deletions of the progranulin (PGRN) locus were recently described in patients with frontotemporal lobar degeneration (FTLD). FTLD is a genetically complex neurodegenerative disorder with mutations in the PGRN and the microtubule-associated protein tau (MAPT) genes being the most common known causes of familial FTLD. In this study, we investigated 39 patients with FTLD, previously found negative for mutations in PGRN and MAPT, for copy number alterations of these 2 genes. 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. Copyright (C) 2009 S. Karger AG, Basel

Place, publisher, year, edition, pages
2009. Vol. 28, no 5, 471-475 p.
Keyword [en]
Frontotemporal lobar degeneration; Frontotemporal dementia; Progranulin; Tau; Gene dosage alterations
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:du-13165DOI: 10.1159/000260046ISI: 000272607200012OAI: oai:DiVA.org:du-13165DiVA: diva2:655819
Available from: 2013-10-14 Created: 2013-10-14 Last updated: 2014-09-26Bibliographically approved

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CiteExportLink to record
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Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
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  • Other style
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