Imaging in Familial Frontotemporal Lobar Degeneration With Mutations in MAPT or PGRN

Review Article

Submission date: 29th May 2009, Revision date: 11th July 2009, Acceptance date: 8th August 2009

ABSTRACT
Background:
Familial frontotemporal lobar degeneration is most commonly related to mutations in the microtubule associated protein tau (MAPT) gene or the progranulin (PGRN) gene.

Methods:
Review of imaging findings in subjects with MAPT and PGRN mutations.

Results:
Patterns of atrophy vary across subjects yet patterns of anterior temporal dominant atrophy appear to be associated with MAPT mutations, while parietal lobe atrophy and significant asymmetry appear to be associated with PGRN
mutations.

Conclusions:
Imaging may be helpful in differentiating familial frontotemporal dementia patients with mutations in MAPT from those
with mutations in PGRN.

Keywords: frontotemporal lobar degeneration, tau, progranulin, structural imaging, functional imaging, voxel-based morphometry, genetic

Correspondence: Keith A. Josephs, MST, MD, MS, Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. Tel: +1-507-538-1038; fax: +1-507-538-6012; e-mail: josephs.keith@mayo.edu