Case #6

by | Sep 26, 2023 | 2023 Diagnostic Case Studies

Presenter

Karam Han

Authors

Karam Han 1, Harry V. Vinters 2,3, Shino D. Magaki 2

1 School of Medicine and Public Health, Department of Pathology, University of Wisconsin, Madison, WI 53792, USA

2 Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA

3 Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA

Clinical Summary

61-year-old man who initially presented with word-finding difficulty and motor speech deficit, five years prior to his death. He also reported difficulties recalling information but denied personality changes, aggressive behaviors, or getting lost. Over the years, he became completely dependent in activities of daily living, with minimal verbal output. A family history of dementia on the paternal side is noted.

Discussion points

  1. Differential diagnosis?
  2. Additional workup?
  3. Pathogenesis?
H&E Slide
Tau
3R and 4R tau isoforms, Abeta section of frontal lobe
Reveal Diagnosis

Case of Frontotemporal lobar degeneration with tau-immunoreactive inclusions (FTLD-tau) with microtubule-associated protein tau
(MAPT) p.P301L mutation (FTLD-MAPT)

Additional relevant investigations and comment.
Multiple family members including his paternal grandfather, father, uncle, his younger brother and himself were found to carry
the P301L mutation. He had been a participant in a longitudinal research study titled, “Examination of the Earliest Symptoms
and Biomarkers of FTD MAPT carriers.”

References 
Forrest, SL et al (2018) Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal
tauopathies. Brain, 141(2), 521-534.
Ghetti, B et al (2015) Invited review: frontotemporal dementia caused by microtubule associated protein tau gene (MAPT)
mutations: a chameleon for neuropathology and neuroimaging. Neuropathology and applied neurobiology, 41(1), 24-46.
Tacik, P et al (2017) Clinicopathologic heterogeneity in FTDP-17 due to MAPT p. P301L mutation, including a patient with
globular glial tauopathy. Neuropathology and applied neurobiology, 43(3), 200.

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