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Review
. 2021:1281:77-92.
doi: 10.1007/978-3-030-51140-1_6.

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

Bradley F Boeve  1 , Howard Rosen  2
Affiliations
Review

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

Bradley F Boeve et al. Adv Exp Med Biol. 2021.

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.

Keywords: Frontotemporal dementia; Frontotemporal lobar degeneration; Microtubule-associated protein tau (MAPT); Neurogenetics; Progranulin (GRN).

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