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ApoE and TDP-43 neuropathology in two siblings with familial FTLD-motor neuron disease.

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  • معلومة اضافية
    • المصدر:
      Publisher: Routledge Country of Publication: England NLM ID: 9511374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3656 (Electronic) Linking ISSN: 13554794 NLM ISO Abbreviation: Neurocase Subsets: MEDLINE
    • بيانات النشر:
      Publication: 2013- : London : Routledge
      Original Publication: Oxford, UK : Oxford University Press, c1995-
    • الموضوع:
      Apolipoproteins E/*genetics ; DNA-Binding Proteins/*genetics ; Frontotemporal Lobar Degeneration/*genetics ; Motor Neuron Disease/*genetics; Frontotemporal Lobar Degeneration/complications ; Frontotemporal Lobar Degeneration/diagnosis ; Motor Neuron Disease/complications ; Motor Neuron Disease/diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuropsychological Tests ; Psychiatric Status Rating Scales ; Siblings
    • نبذة مختصرة :
      Frontotemporal lobar degeneration with motor neuron disease (FTLD-MND) is characterized by neuronal cytoplasmic inclusions containing TDP-43. Apolipoprotein E4 (apoE4), derived from the apoE ϵ4 allele, enhances brain atrophy in FTLD through unknown mechanisms. Here, we studied two siblings with C9ORF72-linked familial FTLD-MND, an apoE ϵ4 homozygote and an apoE ϵ3 homozygote. The apoE ϵ4 homozygote had more cognitive-behavioral symptoms, fronto-insulo-temporal atrophy, and apoE fragments and aggregates in the anterior cingulate cortex. ApoE formed complexes with TDP-43 that were more abundant in the apoE ϵ4 homozygote. Although differences seen in a sibling pair could arise due to chance, these findings raise the possibility that apoE4 exacerbates brain pathology in FTLD through formation of neurotoxic apoE fragments and interactions with TDP-43.
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    • Grant Information:
      P50 AG023501 United States AG NIA NIH HHS; K23 AG038357 United States AG NIA NIH HHS; R21 OD011915 United States OD NIH HHS; P01 AG019724 United States AG NIA NIH HHS; K26 OD010927 United States OD NIH HHS; P01 AG022074 United States AG NIA NIH HHS; AG023501 United States AG NIA NIH HHS
    • الرقم المعرف:
      0 (Apolipoproteins E)
      0 (DNA-Binding Proteins)
    • الموضوع:
      Date Created: 20120420 Date Completed: 20140123 Latest Revision: 20211021
    • الموضوع:
      20260130
    • الرقم المعرف:
      PMC3655113
    • الرقم المعرف:
      10.1080/13554794.2012.667124
    • الرقم المعرف:
      22512241