Abstract
We report a patient with familial α-lipoprotein deficiency (Tangier disease) who presented with recurrent lobar intracerebral hemorrhages and accumulating microbleeds on T*2-weighted magnetic resonance imaging, suggestive of probable cerebral amyloid angiopathy. This case provides new insight into the links between the adenotriphosphate-binding cassette A1 (ABCA1) transporter gene mutation in Tangier disease and apolipoprotein-E expression in the brain and supports further investigation of the potential role of ABCA1 transporter in cerebral amyloid angiopathy.
Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.
MeSH terms
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ATP Binding Cassette Transporter 1
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ATP-Binding Cassette Transporters / genetics
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Apolipoproteins E / metabolism
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Cerebral Amyloid Angiopathy / diagnosis
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Cerebral Amyloid Angiopathy / etiology*
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Cerebral Amyloid Angiopathy / metabolism
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Cerebral Angiography / methods
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Cerebral Hemorrhage / diagnosis
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Cerebral Hemorrhage / etiology*
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Cerebral Hemorrhage / metabolism
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Diffusion Magnetic Resonance Imaging
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Female
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Humans
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Middle Aged
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Mutation
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Recurrence
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Tangier Disease / complications*
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Tangier Disease / genetics
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Tangier Disease / metabolism
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Tomography, X-Ray Computed
Substances
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ABCA1 protein, human
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ATP Binding Cassette Transporter 1
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ATP-Binding Cassette Transporters
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Apolipoproteins E