title: No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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: Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, SE-751 85 Uppsala, Sweden. Lena.Skoglund@pubcare.uu.se
authors: Lena
authors: L
authors: Skoglund
authors: Sofie
authors: S
authors: Ingvast
authors: Toshifumi
authors: T
authors: Matsui
authors: Stefanie H
authors: SH
authors: Freeman
authors: Matthew P
authors: MP
authors: Frosch
authors: Rosemarie
authors: R
authors: Brundin
authors: Vilmantas
authors: V
authors: Giedraitis
authors: John H
authors: JH
authors: Growdon
authors: Bradley T
authors: BT
authors: Hyman
authors: Lars
authors: L
authors: Lannfelt
authors: Martin
authors: M
authors: Ingelsson
authors: Anna
authors: A
authors: Glaser
mesh_terms: D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D000077153:Progranulins; D016875:tau Proteins / Q000235:genetics*
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D016875:tau Proteins