1. Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation
- Author
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Sebastiaan Engelborghs, Steven Vermeulen, Mathieu Vandenbulcke, Arne De Roeck, Tobi Van den Bossche, Rik Vandenberghe, Marleen Van den Broeck, Anne Sieben, Jean-Jacques Martin, Annelies Laureys, Peter Paul De Deyn, Caroline Van Cauwenberghe, Patrick Cras, Kristel Sleegers, Maria Mattheijssens, Karin Peeters, Christine Van Broeckhoven, Elise Cuyvers, Clinical sciences, Neurology, Physiotherapy, Human Physiology and Anatomy, Pathologic Biochemistry and Physiology, and Molecular Neuroscience and Ageing Research (MOLAR)
- Subjects
0301 basic medicine ,Apolipoprotein E ,NATIONAL INSTITUTE ,Male ,Pathology ,MILD COGNITIVE IMPAIRMENT ,SYMPTOMS ,ATP-Binding Cassette Transporters/genetics ,Disease ,VARIANTS ,DISEASE ,0302 clinical medicine ,ASSOCIATION GUIDELINES ,Medicine and Health Sciences ,Family history ,Age of Onset ,Apolipoprotein E4/genetics ,NEUROPATHOLOGIC ,Medicine(all) ,DEMENTIA ,Middle Aged ,3. Good health ,ASSESSMENT ,Disease Progression ,Female ,Alzheimer's disease ,medicine.medical_specialty ,Heterozygote ,NEUROPATHOLOGIC ASSESSMENT ,Alzheimer Disease/diagnostic imaging ,Neuropathology ,Biology ,DIAGNOSIS ,Article ,03 medical and health sciences ,Alzheimer Disease ,Internal medicine ,medicine ,Dementia ,Humans ,Genetic Predisposition to Disease ,Biomarkers/cerebrospinal fluid ,METAANALYSIS ,Aged ,Retrospective Studies ,Biology and Life Sciences ,Retrospective cohort study ,medicine.disease ,Brain/diagnostic imaging ,030104 developmental biology ,Cerebrovascular Disorders/complications ,ATP-Binding Cassette Transporters ,Neurology (clinical) ,Human medicine ,Age of onset ,mutation ,aged, 80 and over ,030217 neurology & neurosurgery ,Genome-Wide Association Study - 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 (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. ispartof: Neurology vol:86 issue:23 pages:2126-2133 ispartof: location:United States status: published
- Published
- 2016