Journal article
A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases
Journal of neuropathology and experimental neurology, Vol.73(5), pp.467-473
05/2014
DOI: 10.1097/NEN.0000000000000070
PMCID: PMC4109801
PMID: 24709683
Abstract
Understanding of frontotemporal lobar degeneration, the underlying pathology most often linked to the clinical diagnosis of frontotemporal dementia, is rapidly increasing. Mutations in 7 known genes (MAPT, GRN, C9orf72, VCP, CHMP2B, and, rarely, TARDBP and FUS) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. Mutations in one of these genes (GRN), which encodes progranulin, have been implicated in up to a quarter of cases of frontotemporal lobar degeneration with TDP-43 (TAR DNA-binding protein 43)-positive inclusions; currently, there are more than 60 known pathogenic mutations of the gene. We present the clinical, pathologic, and genetic findings on 6 cases from 4 families, 5 of which were shown to have a novel GRN c.708+6_+9delTGAG mutation.
Details
- Title: Subtitle
- A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases
- Creators
- Esther N Bit-Ivan - From the Departments of Pathology (ENB-I, EHB), Psychiatry and Behavioral Science (SW), and Neurology (MM), Northwestern University; Northwestern Cognitive Neurology and Alzheimer Disease Center (SW, MM, EHB); and Rush University Medical Center (JAS), Chicago, Illinois; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania (ES, SEA, EM-W, VMVD, JQT); Department of Neurology, University of Iowa, Iowa City, Iowa (H-SS); Massachusetts General Hospital, Boston, Massachusetts (BTH, MPF); and Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida (MCB, RR)Eunran SuhHyung-Sub ShimSandra WeintraubBradley T HymanSteven E ArnoldElisabeth McCarty-WoodViviana M Van DeerlinJulie A SchneiderJohn Q TrojanowskiMatthew P FroschMatt C BakerRosa RademakersMarsel MesulamEileen H Bigio
- Resource Type
- Journal article
- Publication Details
- Journal of neuropathology and experimental neurology, Vol.73(5), pp.467-473
- DOI
- 10.1097/NEN.0000000000000070
- PMID
- 24709683
- PMCID
- PMC4109801
- NLM abbreviation
- J Neuropathol Exp Neurol
- ISSN
- 0022-3069
- eISSN
- 1554-6578
- Publisher
- England
- Grant note
- P30 AG062421 / NIA NIH HHS AG005134 / NIA NIH HHS P50 AG005134 / NIA NIH HHS AG010124 / NIA NIH HHS P30 AG010124 / NIA NIH HHS R01 AG042210 / NIA NIH HHS P30 AG13854 / NIA NIH HHS P30 AG013854 / NIA NIH HHS R01 NS065782 / NINDS NIH HHS P01 AG017586 / NIA NIH HHS AG017586 / NIA NIH HHS
- Language
- English
- Date published
- 05/2014
- Academic Unit
- Neurology; Psychiatry
- Record Identifier
- 9984020649502771
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