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Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype
- Source :
- American journal of Alzheimer's disease and other dementias. 36
- Publication Year :
- 2021
-
Abstract
- 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 suggestive of cerebral amyloid angiopathy (CAA). Contrary to previous reports, this case raises the possibility that the APP E665D genetic change may be pathogenic, particularly given the abnormal Alzheimer’s disease biomarkers observed in the cerebrospinal fluid, positive amyloid imaging and imaging evidence for CAA in a relatively young patient with progressive cognitive decline.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
Amyloid
White matter
03 medical and health sciences
Amyloid beta-Protein Precursor
0302 clinical medicine
Cerebrospinal fluid
Alzheimer Disease
mental disorders
Amyloid precursor protein
Medicine
Humans
Early-onset Alzheimer's disease
Amyloid beta-Peptides
biology
business.industry
General Neuroscience
Middle Aged
medicine.disease
Hyperintensity
Psychiatry and Mental health
Clinical Psychology
Cerebral Amyloid Angiopathy
030104 developmental biology
medicine.anatomical_structure
Phenotype
biology.protein
Biomarker (medicine)
Cerebral amyloid angiopathy
Geriatrics and Gerontology
business
030217 neurology & neurosurgery
Biomarkers
Subjects
Details
- ISSN :
- 19382731
- Volume :
- 36
- Database :
- OpenAIRE
- Journal :
- American journal of Alzheimer's disease and other dementias
- Accession number :
- edsair.doi.dedup.....fae3ca6bafb7180794d661cf1e7e4f6b