An Autopsy Case of Preclinical/Early Clinical Pick Disease

Abstract

Here, we report a 74-year-old woman with a long history of schizophrenia but no clinical manifestation of dementia. Cause of death after autopsy was atherosclerotic heart disease. Although neuropathological investigation showed no significant brain atrophy, superficial microvacuolation with neuronal loss was restrictedly detected in the right anterior cingulate gyrus by microscopic examination. Pick bodies (PBs) positive for Bodian and Bielshowsky staining and 3-repeat-tau were detected in frontal and temporal lobes and limbic regions. Prevalence of PBs was most frequent in the right anterior cingulate gyrus and lateral base, followed by other neocortical regions of the frontal lobe, amygdala, and granular layer of the hippocampus. Although the number of glial inclusions was low, ramified astrocytes and various forms of astrocytes with AT8-positive inclusions were also found. Thus, the case may reflect preclinical or very early clinical Pick disease. Distribution of PBs does not necessarily have to be consistent with previously reported preclinical/early clinical Pick disease. These results show that tau pathology in the earlier stage of Pick disease may be heterogeneous, and the anterior cingulate gyrus may be initially affected in Pick disease. Neuropathological examination, including immunohistochemistry without case selection, is useful in identifying clinical and pathological manifestations of Pick disease.

Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings

“…was found in our literature review. The pathological findings of the case were sparce neuritic Aβ plaques but with abundant diffuse form plaque, and the Braak tau stage was II 3 . Cases 1 and 2 showed that the significance of neuronal loss and/or extension to the cerebral neocortex of NFTs may be essential for the occurrence of overt dementia in PSEN1 carriers.…”

“…The pathological findings of the case were sparce neuritic Aβ plaques but with abundant diffuse form plaque, and the Braak tau stage was II. 3 Cases 1 and 2 showed that the significance of neuronal loss and/or extension to the cerebral neocortex of NFTs may be essential for the occurrence of overt dementia in PSEN1 carriers. Contrarily, in addition to both genetic and phenotypic heterogeneities in PSEN‐associated AD, pathological diversity has also been reported, including frontotemporal neuronal loss, cotton wool plaque with mutations in exons 8 and 9, and a range of biochemical changes in white matter.…”

“…The neuropathological investigation for presymptomatic or early symptomatic mutation career may be significant for exploring the etiology of dementia and other associated symptoms in familial AD, similar to other neurodegenerative diseases. 3 However, such investigations is extremely scarce. 4 Here, we showed the neuropathological appearance of the forensic autopsy cases of two brothers with the same PSEN1 mutation.…”