Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations

Bradley F. Boeve, Howard Rosen

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Numerous kindreds with familial frontotemporal lobar degeneration have been linked to mutations in microtubule-associated protein tau (MAPT) or progranulin (GRN) genes. While there are many similarities in the clinical manifestations and associated neuroimaging findings, there are also distinct differences. In this review, we compare and contrast the demographic/inheritance characteristics, histopathology, pathophysiology, clinical aspects, and key neuroimaging findings between those with MAPT and GRN mutations.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer
Pages77-92
Number of pages16
DOIs
StatePublished - 2021

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1281
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Keywords

  • Frontotemporal dementia
  • Frontotemporal lobar degeneration
  • Microtubule-associated protein tau (MAPT)
  • Neurogenetics
  • Progranulin (GRN)

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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