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Article

Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype.

American journal of Alzheimer's disease and other dementias - 1 Jan 2000

Abbatemarco Justin R, Jones Stephen E, Larvie Mykol, Bekris Lynn M, Khrestian Maria E, Krishnan Kamini, Leverenz James B

Abstract excerpt

We describe a clinical, imaging and biomarker phenotype associated with an amyloid precursor gene (APP) E665D variant in a 45-year-old man with progressive cognitive and behavioral dysfunction. Brain MRI showed bilateral, confluent T2 hyperintensities predominantly in the anterior white matter. Amyloid imaging and CSF testing were consistent with amyloid deposition. 7 Tesla MRI revealed cerebral microhemorrhages...

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Identifiers

PMID: 33445953
DOI: 10.1177/1533317520981225
PMCID: PMC10580711

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