FTLD-TDP and progressive supranuclear palsy in comorbidity—a report of two cases with different clinical presentations

ABSTRACT

Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices. Clinical and neuropathological correlations in atypical neurodegenerations are crucial to describe new entities of overlapping syndromes.

KEYWORDS:

• Progressive supranuclear palsy
• frontotemporal lobar degeneration
• tauopathy
• TDP-43 inclusions
• dementia

Acknowledgments

The authors wish to thank Pavel Fendrych, MD, PhD (IKEM Hospital, Prague, Czech Republic), and Zdenek Seidl, MD, PhD (General University Hospital, Prague, Czech Republic), for providing MRI services, and Tom Secrest for revisions on the English version of this article.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This study was partly supported by research programs of Charles University in Prague [PRVOUK-P26/LF1/4, PRVOUK-P27/LF1/1, PRVOUK-P34, and GAUK 113115]; project OPPK CZ.2.16/3.1.00/24509 and by institutional support of Na Homolce Hospital, Prague [MH CZ DRO, 00023884, PVI7501IPMZ].