Progressive Supranuclear Palsy Syndrome Associated With a Novel Tauopathy: Case Study

Shelley L Forrest; Maria Carmela Tartaglia; Ain Kim; Paula Alcaide-Leon; Ekaterina Rogaeva; Anthony Lang; Gabor G Kovacs

doi:10.1212/WNL.0000000000201485

Progressive Supranuclear Palsy Syndrome Associated With a Novel Tauopathy: Case Study

Neurology. 2022 Dec 12;99(24):1094-1098. doi: 10.1212/WNL.0000000000201485.

Authors

Shelley L Forrest¹, Maria Carmela Tartaglia¹, Ain Kim¹, Paula Alcaide-Leon¹, Ekaterina Rogaeva¹, Anthony Lang¹, Gabor G Kovacs²

Affiliations

¹ From the Dementia Research Centre (S.L.F.), Macquarie Medical School, Faculty of Health and Human Sciences, Macquarie University, Sydney, Australia; Tanz Centre for Research in Neurodegenerative Disease (S.L.F., M.C.T., A.K., E.R., A.L., G.G.K.), University of Toronto, ON, Canada; University Health Network Memory Clinic & Krembil Brain Institute (M.C.T.), University Health Network, Toronto, ON, Canada; Department of Medical Imaging (P.A.-L.), University of Toronto, Ontario, Canada; Edmond J. Safra Program in Parkinson's Disease (A.L., G.G.K.), Rossy Program for PSP Research and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, ON, Canada; Department of Laboratory Medicine and Pathobiology and Department of Medicine (G.G.K.), University of Toronto, ON, Canada; and Laboratory Medicine Program & Krembil Brain Institute (G.G.K.), University Health Network, ON, Canada.
² From the Dementia Research Centre (S.L.F.), Macquarie Medical School, Faculty of Health and Human Sciences, Macquarie University, Sydney, Australia; Tanz Centre for Research in Neurodegenerative Disease (S.L.F., M.C.T., A.K., E.R., A.L., G.G.K.), University of Toronto, ON, Canada; University Health Network Memory Clinic & Krembil Brain Institute (M.C.T.), University Health Network, Toronto, ON, Canada; Department of Medical Imaging (P.A.-L.), University of Toronto, Ontario, Canada; Edmond J. Safra Program in Parkinson's Disease (A.L., G.G.K.), Rossy Program for PSP Research and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, ON, Canada; Department of Laboratory Medicine and Pathobiology and Department of Medicine (G.G.K.), University of Toronto, ON, Canada; and Laboratory Medicine Program & Krembil Brain Institute (G.G.K.), University Health Network, ON, Canada. [email protected].

PMID: 36192179
DOI: 10.1212/WNL.0000000000201485

Abstract

Background and objectives: To report a novel tauopathy in a patient with protracted course progressive supranuclear palsy (PC-PSP).

Methods: This was a clinical follow-up, gene analysis, neuropathologic study.

Results: A 73-year-old man presented with diplopia, slowness, shuffling gait, and falls. Neurologic examination revealed slowed saccades, restricted up-gaze, and mild parkinsonism. Three years after onset, he developed personality changes. Slowly progressive parkinsonism was associated with memory and executive deficits. MRI showed subtle bilateral hippocampal and midbrain tegmentum atrophy and hyperintensity in the brainstem tegmentum and white matter of the medial temporal lobe. The duration of illness was 11 years. There were no pathogenic mutations in 80 genes known to be involved in neurodegeneration, including MAPT (H1/H1 haplotype) and APOE (ε3/ε3 genotype). Neuropathology revealed PSP type pathology together with the pathology described in the novel limbic-predominant neuronal inclusion body 4-repeat tauopathy (LNT) correlating well with the signal alterations seen in MRI.

Discussion: Our observation broadens the spectrum of tau pathology associated with PC-PSP and suggests that memory deficit and hippocampal atrophy may be suggestive of non-Alzheimer disease pathology, including LNT. Understanding the diverse range of tau morphologies may help explain phenotypic heterogeneity seen in PSP.

Publication types

Case Reports

MeSH terms

Aged
Atrophy
Humans
Male
Parkinsonian Disorders* / pathology
Supranuclear Palsy, Progressive* / complications
Supranuclear Palsy, Progressive* / diagnostic imaging
Supranuclear Palsy, Progressive* / genetics
Syndrome
Tauopathies* / complications
Tauopathies* / diagnostic imaging
Tauopathies* / genetics
tau Proteins / genetics

Substances

tau Proteins