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Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation
Tobi Van den Bossche1, Kristel Sleegers1, Elise Cuyvers1
1From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
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 (54-90) years, which was independent of APOE genotype and cerebrovascular disease. The mean disease duration was 5.7 ± 3.0 years (range 2-12 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.
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