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A cortical form of CADASIL with cerebral Aβ amyloidosis

A cortical form of CADASIL with cerebral Aβ amyloidosis Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was diagnosed by genetic testing in a 53-year-old patient, 10 years before death. Following two strokes with partial recovery, he developed rapidly progressive cognitive decline 3 years before death. Neuropathology confirmed CADASIL. Characteristic arteriolar changes were associated with subcortical infarcts, and status cribrosus in basal ganglia and the cortico-subcortical junctions. Leukoencephalopathy was very mild. Severe arteriolar changes in the cerebral cortex and leptomeninges were associated with numerous intracortical microinfarcts. There was abundant Abeta deposition throughout the cerebral cortex, mainly as Aβ42 diffuse plaques, frequently periarteriolar. There was no cerebral amyloid angiopathy apart from rare Aβ40 deposits around Notch3-positive deposits. Amyloid plaques were rare. Tau pathology was minimal. Alzheimer disease associated with CADASIL has been described, but the few reported cases had abundant amyloid plaques, amyloid angiopathy, fibrillar plaques and neurofibrillary tangles. Aβ accumulation could result from abnormal Aβ synthesis or impaired elimination due to the arteriolar changes of CADASIL. We did not find Aβ deposits in our other CADASIL cases with milder cortical arteriolar changes. Additional genetic predisposing factors were not identified. This case suggests that besides the classical, purely subcortical form of CADASIL, a “cortical” form with numerous lacunar infarcts and Aβ deposition in the cerebral cortex may occur and may be difficult to differentiate clinically from Alzheimer disease. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Neuropathologica Springer Journals

A cortical form of CADASIL with cerebral Aβ amyloidosis

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References (53)

Publisher
Springer Journals
Copyright
Copyright © 2010 by Springer-Verlag
Subject
Medicine & Public Health; Pathology; Neurosciences
ISSN
0001-6322
eISSN
1432-0533
DOI
10.1007/s00401-010-0758-y
pmid
20957378
Publisher site
See Article on Publisher Site

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was diagnosed by genetic testing in a 53-year-old patient, 10 years before death. Following two strokes with partial recovery, he developed rapidly progressive cognitive decline 3 years before death. Neuropathology confirmed CADASIL. Characteristic arteriolar changes were associated with subcortical infarcts, and status cribrosus in basal ganglia and the cortico-subcortical junctions. Leukoencephalopathy was very mild. Severe arteriolar changes in the cerebral cortex and leptomeninges were associated with numerous intracortical microinfarcts. There was abundant Abeta deposition throughout the cerebral cortex, mainly as Aβ42 diffuse plaques, frequently periarteriolar. There was no cerebral amyloid angiopathy apart from rare Aβ40 deposits around Notch3-positive deposits. Amyloid plaques were rare. Tau pathology was minimal. Alzheimer disease associated with CADASIL has been described, but the few reported cases had abundant amyloid plaques, amyloid angiopathy, fibrillar plaques and neurofibrillary tangles. Aβ accumulation could result from abnormal Aβ synthesis or impaired elimination due to the arteriolar changes of CADASIL. We did not find Aβ deposits in our other CADASIL cases with milder cortical arteriolar changes. Additional genetic predisposing factors were not identified. This case suggests that besides the classical, purely subcortical form of CADASIL, a “cortical” form with numerous lacunar infarcts and Aβ deposition in the cerebral cortex may occur and may be difficult to differentiate clinically from Alzheimer disease.

Journal

Acta Neuropathologica – Springer Journals

Published: Oct 19, 2010

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