No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration
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
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.
Gene dosage analysis of PGRN and MAPT was performed using multiplex ligation-dependent probe amplification.
We did not identify any PGRN or MAPT gene dosage variations in the 39 FTLD patients investigated.
We therefore conclude that alterations in gene copy number of PGRN and MAPT are not a cause of disease in this ollection of FTLD patients.
Place, publisher, year, edition, pages
2009. Vol. 28, no 5, 471-475 p.
Frontotemporal lobar degeneration, Frontotemporal dementia, Progranulin, Tau, Gene dosage alterations
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-98044DOI: 10.1159/000260046ISI: 000272607200012PubMedID: 19940479OAI: oai:DiVA.org:uu-98044DiVA: diva2:173210