The neuropathology of chromosome 17-linked dementia
Sima, Anders A. F.; Defendini, R.; Keohane, C.; D'Amato, Constance J.; Foster, Norman L.; Parchi, P.; Gambetti, P.; Lynch, T.; Wilhelmsen, Kirk C.
1996-06
Citation
Sima, A. A. F.; Defendini, R.; Keohane, C.; D'Amato, C.; Foster, N. L.; Parchi, P.; Gambetti, P.; Lynch, T.; Wilhelmsen, K. C. (1996)."The neuropathology of chromosome 17-linked dementia." Annals of Neurology 39(6): 734-743. <http://hdl.handle.net/2027.42/50360>
Abstract
We recently described a family with chromosome 17-linked dementia, characterized clinically by disinhibition-dementia parkinsonism-amyotrophy complex. We report now the neuropathology of 6 affected family members. This included semiquantitative scoring of neuronal loss, gliosis, and spongiosis and immunocytochemical and ultrastructural characterization of neuronal and glial inclusions. The changes consisted of circumscribed neuronal loss, gliosis, and spongiosis of limbic neocortical areas and frontal, temporal, and occipital association areas. Similar changes were present in subcortical nuclei, most severe in the substantia nigra, but also involved the ventral striatum and amygdala. The hippocampus was spared except for degeneration of the afferent perforant tract, secondary to entorhinal nerve cell loss. Hgyrophilic neuronal inclusions, with a characteristic immunocytochemical profile, were found in brainstem nuclei, hypothalamus, and basal ganglia. Ultrastructurally, in 3 patients these inclusions showed hitherto undescribed abnormally assembled filaments. Glial cytoplasmic inclusions were widespread in white matter structures. Immunocytochemistry failed to demonstrate the protease-resistant prion protein. The pathology appears to be unique, involving various cortical and subcortical structures, and is consistent with the clinical findings of Kliiver-Bucy-like syndrome, parkinsonism, and frontal lobe dementia. For this entity we suggest the term “chromosome 17- linked dementia”.Publisher
Wiley Subscription Services, Inc., A Wiley Company
ISSN
0364-5134 1531-8249
Other DOIs
PMID
8651645
Types
Article
Metadata
Show full item recordAccessibility: If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.