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Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

(2016) NEUROLOGY. 86(23). p.2126-2133
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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.
Keywords
MILD COGNITIVE IMPAIRMENT, NATIONAL INSTITUTE, NEUROPATHOLOGIC, ASSESSMENT, ASSOCIATION GUIDELINES, DISEASE, DEMENTIA, DIAGNOSIS, METAANALYSIS, VARIANTS, SYMPTOMS

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Chicago
Van den Bossche, Tobi, Kristel Sleegers, Elise Cuyvers, Sebastiaan Engelborghs, Anne Sieben, Arne De Roeck, Caroline Van Cauwenberghe, et al. 2016. “Phenotypic Characteristics of Alzheimer Patients Carrying an ABCA7 Mutation.” Neurology 86 (23): 2126–2133.
APA
Van den Bossche, T., Sleegers, K., Cuyvers, E., Engelborghs, S., Sieben, A., De Roeck, A., Van Cauwenberghe, C., et al. (2016). Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation. NEUROLOGY, 86(23), 2126–2133.
Vancouver
1.
Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, et al. Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation. NEUROLOGY. 2016;86(23):2126–33.
MLA
Van den Bossche, Tobi, Kristel Sleegers, Elise Cuyvers, et al. “Phenotypic Characteristics of Alzheimer Patients Carrying an ABCA7 Mutation.” NEUROLOGY 86.23 (2016): 2126–2133. Print.
@article{8547507,
  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.},
  author       = {Van den Bossche, Tobi and Sleegers, Kristel and Cuyvers, Elise and Engelborghs, Sebastiaan and Sieben, Anne and De Roeck, Arne and Van Cauwenberghe, Caroline and Vermeulen, Steven and Van den Broeck, Marleen and Laureys, Annelies and Peeters, Karin and Mattheijssens, Maria and Vandenbulcke, Mathieu and Vandenberghe, Rik and Martin, Jean-Jacques and De Deyn, Peter P and Cras, Patrick and Van Broeckhoven, Christine and BELNEU consortium, the and Santens, Patrick and De Bleecker, Jan and Dermaut, Bart},
  issn         = {0028-3878},
  journal      = {NEUROLOGY},
  keyword      = {MILD COGNITIVE IMPAIRMENT,NATIONAL INSTITUTE,NEUROPATHOLOGIC,ASSESSMENT,ASSOCIATION GUIDELINES,DISEASE,DEMENTIA,DIAGNOSIS,METAANALYSIS,VARIANTS,SYMPTOMS},
  language     = {eng},
  number       = {23},
  pages        = {2126--2133},
  title        = {Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation},
  url          = {http://dx.doi.org/10.1212/WNL.0000000000002628},
  volume       = {86},
  year         = {2016},
}

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