scholarly journals Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation

2019 ◽  
Vol 78 (7) ◽  
pp. 585-594 ◽  
Author(s):  
Dibson D Gondim ◽  
Adrian Oblak ◽  
Jill R Murrell ◽  
Rose Richardson ◽  
Francine Epperson ◽  
...  
2004 ◽  
Vol 128 (1) ◽  
pp. 32-38 ◽  
Author(s):  
Catherina Fu ◽  
Dennis J. Chute ◽  
Emad S. Farag ◽  
Justine Garakian ◽  
Jeffrey L. Cummings ◽  
...  

Abstract Context.—There is a paucity of accurate postmortem data pertinent to comorbid medical conditions in patients with dementia, including Alzheimer disease. Objectives.—The purposes of this study were (a) to examine general autopsy findings in patients with a dementia syndrome and (b) to establish patterns of central nervous system comorbidity in these patients. Design.—Review of autopsy reports and selected case material from 202 demented patients who had “brain-only” autopsies during a 17-year period (1984–2000) and from 52 demented patients who had general autopsies during a 6-year period (1995–2000). Setting.—Large academic medical center performing approximately 200 autopsies per year. Results.—Among the 52 patients who underwent complete autopsy, the most common cause of death was bronchopneumonia, which was found in 24 cases (46.1%). Other respiratory problems included emphysema, found in 19 (36.5%) of 52 patients, and pulmonary thromboembolism, found in 9 (17.3%) of 52 patients. In 6 cases, pulmonary thromboembolism was the proximate cause of death. Twenty-one (40.3%) of the 52 patients had evidence of a myocardial infarct (varying ages) and 38 (73.1%) had atherosclerotic cardiovascular disease, 27 of a moderate to severe degree. Four clinically unsuspected malignancies were found: 1 each of glioblastoma multiforme, diffusely infiltrative central nervous system lymphoma, pancreatic adenocarcinoma, and adenocarcinoma of the lung. One patient with frontotemporal dementia and amyotrophic lateral sclerosis died of severe meningoencephalitis/ventriculitis, probably secondary to seeding of the central nervous system by an infected cardiac valve. Of the 202 demented patients who underwent brain-only autopsies, the following types of dementia were found: 129 (63.8%) cases showed changes of severe Alzheimer disease, 21 (10.4%) showed combined neuropathologic abnormalities (Alzheimer disease plus another type of lesion, such as significant ischemic infarcts or diffuse Lewy body disease), 12 (5.9%) cases of relatively pure ischemic vascular dementia, 13 (6.4%) cases of diffuse Lewy body disease, and 8 (4.0%) cases of frontotemporal dementia. The remaining 19 (9.4%) patients showed miscellaneous neuropathologic diagnoses, including normal pressure hydrocephalus and progressive supranuclear palsy. Among the demented patients, 92 (45.5%) had cerebral atherosclerosis, which was moderate to severe in 65 patients (32.2%). Conclusions.—Some of the conditions found at autopsy, had they been known antemortem, would likely have affected clinical management of the patients. Autopsy findings may be used as a quality-of-care measure in patients who have been hospitalized in chronic care facilities for a neurodegenerative disorder.


Neurology ◽  
2018 ◽  
Vol 91 (3) ◽  
pp. e268-e279 ◽  
Author(s):  
Koji Kasanuki ◽  
Keith A. Josephs ◽  
Tanis J. Ferman ◽  
Melissa E. Murray ◽  
Shunsuke Koga ◽  
...  

ObjectiveTo describe clinical and pathologic characteristics of diffuse Lewy body disease (DLBD) manifesting as corticobasal syndrome (CBS).MethodsIn 523 autopsy-confirmed cases of DLBD, we identified 11 patients diagnosed with CBS. For comparison, we studied 22 DLBD brains with antemortem presentation of dementia with Lewy bodies (DLB). Given previous studies suggesting the importance of pathology in peri-Rolandic cortices in CBS, we used digital pathology to count Lewy bodies and to quantify intracytoplasmic and neuritic α-synuclein and phospho-tau burden in the motor cortex.ResultsDLBD patients with antemortem features of CBS were significantly younger at disease onset and less likely to have REM sleep behavior disorder than DLBD cases who met clinical criteria for DLB during life. Patients with DLBD manifesting as CBS had more Lewy bodies in the motor cortex than DLBD manifesting as clinically probable DLB. Three cases had concomitant progressive supranuclear palsy and 4 cases had concomitant Alzheimer disease as probable correlates of CBS.ConclusionThe neuropathology underlying CBS is heterogeneous, including corticobasal degeneration, Alzheimer disease, and progressive supranuclear palsy. This study suggests that atypical variants of Lewy body disease with severe peri-Rolandic Lewy-related pathology can present clinically as CBS. Patients with DLBD who present as CBS tend to have an earlier age at onset and are less likely to have clinical features of DLB, such as dream enactment behavior during sleep, visual hallucinations, and levodopa-responsive parkinsonism. Future studies with biofluid or molecular imaging biomarkers for α-synuclein will permit better recognition of this uncommon pathologic substrate of CBS.


2013 ◽  
Vol 333 ◽  
pp. e335
Author(s):  
E. Sieczkowski ◽  
I. Milenkovic ◽  
R. Giera ◽  
R. Höftberger ◽  
T. Ströbel ◽  
...  

1996 ◽  
pp. 153-160 ◽  
Author(s):  
S. Kuzuhara ◽  
M. Yoshimura ◽  
T. Mizutani ◽  
H. Yamanouchi ◽  
Y. Ihara

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