|
Title
|
|
|
|
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation
| |
|
Author
|
|
|
|
| |
|
Abstract
|
|
|
|
| Objective: To generate a clinical and pathologic phenotype of patients carrying rare loss-of-function mutations in ABCA7, identified in a Belgian Alzheimer patient cohort and in an autosomal dominant family. Methods: We performed a retrospective review of available data records, medical records, results of CSF analyses and neuroimaging studies, and neuropathology data. Results: The mean onset age of the mutation carriers (n = 22) was 73.4 ± 8.4 years with a wide age range of 36 (5490) years, which was independent of APOE genotype and cerebrovascular disease. The mean disease duration was 5.7 ± 3.0 years (range 212 years). A positive family history was recorded for 10 carriers (45.5%). All patient carriers except one presented with memory complaints. The 4 autopsied brains showed typical immunohistochemical changes of late-onset Alzheimer disease. Conclusions: All patients carrying a loss-of-function mutation in ABCA7 exhibited a classical Alzheimer disease phenotype, though with a striking wide onset age range, suggesting the influence of unknown modifying factors. |
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
Neurology / American Academy of Neurology. - Minneapolis, Minn
| |
|
Publication
|
|
|
|
Minneapolis, Minn
:
2016
| |
|
ISSN
|
|
|
|
0028-3878
| |
|
DOI
|
|
|
|
10.1212/WNL.0000000000002628
| |
|
Volume/pages
|
|
|
|
86
:23
(2016)
, p. 2126-2133
| |
|
ISI
|
|
|
|
000378417100009
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|
Full text (open access)
|
|
|
|
| |
|