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Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer’s Disease
Abstract
Mutations in the presenilin 2 gene (PS2) are an extremely rare cause of early-onset autosomal dominant Alzheimer's disease (AD), accounting for only 5% of these families. These cases represent a particular model of AD, and the scarcity of reports on their clinical phenotypes makes them of great interest. We report a family with early-onset autosomal dominant AD in four members, where the two living siblings were found to carry the novel PS2 mutation Gly212Val (exon 7, transmembrane domain IV) with highly predicted pathogenicity. Age at onset ranged from 60 to 65 years and three of the cases died between ages 74 and 76 years. Clinical phenotype was quite homogeneous among affected members of the family, and overall features, including cognitive decline, tau/p-tau and amyloid-β cerebrospinal fluid markers, neuroimaging, and neuropathology were consistent with typical AD. Lewy bodies were present but restricted to the amygdala.
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“PSEN2 mutations account for only ~5% of all ADAD cases (394).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [394]
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Research works printed but not linked: 17
- Bird, 2008, Genetic aspects of Alzheimer disease, Genet Med, 10, 231, 10.1097/GIM.0b013e31816b64dc · DOI · Paper page
- Tandon A , Fraser P (2002) The presenilins. Genome Biology 3, reviews.3014.1-3014.9. · DOI
- Zhang, 2014, The γ-secretase complex: From structure to function, Front Cell Neurosci, 8, 427, 10.3389/fncel.2014.00427 · DOI
- Canevelli, 2014, Familial Alzheimer’s disease sustained by presenilin 2 mutations: Systematic review of literature and genotype-phenotype correlation, Neurosci Biobehav Rev, 42, 170, 10.1016/j.neubiorev.2014.02.010 · DOI · Paper page
- Cruts, 2012, Locus-specific mutation databases for neurodegenerative brain diseases, Hum Mutat, 33, 1340, 10.1002/humu.22117 · DOI
- McKhann, 2011, The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging–Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease, Alzheimers Dement, 7, 263, 10.1016/j.jalz.2011.03.005 · DOI · Paper page
- Hyman, 1997, Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease, J Neuropathol Exp Neurol, 56, 1095, 10.1097/00005072-199710000-00002 · DOI · Paper page
- Guerreiro, 2008, Genetic screening of Alzheimer’s disease genes in Iberian and African samples yields novel mutations in presenilins and APP, Neurobiol Aging, 31, 725, 10.1016/j.neurobiolaging.2008.06.012 · DOI
- Goldman, 2002, Very early-onset familial Alzheimer’s disease: A novel presenilin 1 mutation, Int J Geriatric Psychiatry, 17, 649, 10.1002/gps.657 · DOI
- Finckh, 2000, Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I, Neurology, 54, 2006, 10.1212/WNL.54.10.2006 · DOI
- Marcon, 2009, A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype, J Alzheimers Dis, 16, 509, 10.3233/JAD-2009-0986 · DOI
- Jayadev, 2010, Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2, Brain, 133, 1143, 10.1093/brain/awq033 · DOI
- Piscopo, 2008, A novel Italian presenilin 2 mutation (S175Y), Alzheimers Dement, 4, T595, 10.1016/j.jalz.2008.05.1819 · DOI
- Youn, 2014, Probable novel PSEN2 Val214 Leu mutation in Alzheimer’s disease supported by structural prediction, BMC Neurol, 14, 105, 10.1186/1471-2377-14-105 · DOI
- Lao, 1998, A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer’s disease, Neurogenetics, 1, 293, 10.1007/s100480050044 · DOI
- Lleó, 2002, Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain, Arch Neurol, 59, 1759, 10.1001/archneur.59.11.1759 · DOI
- Ezquerra, 2003, A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease, Arch Neurol, 60, 1149, 10.1001/archneur.60.8.1149 · DOI
Cited by
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Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,312
Metadata
- Authors
- Marín-Muñoz, J., Noguera-Perea, M. F., Gómez-Tortosa, E., López-Motos, D., Antequera-Torres, M., Martínez-Herrada, B., Manzanares-Sánchez, S., Vivancos-Moreau, L., Legaz-García, A., Rábano-Gutiérrez del Arroyo, A., & Antúnez-Almagro, C.
- Affiliations
- Dementia Care Unit, Virgen de la Arrixaca University Hospital, IMIB (Instituto Murciano de Investigación Biosanitaria), Murcia, Spain
- Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain
- Murcia Brain Bank, Murcia, Spain
- Instituto Murciano de Investigación Biosanitaria (ES)
- Department of Neuropathology and Brain Tissue Bank, Fundación CIEN, Carlos III Health Institute, Madrid, Spain
- Venue
- Journal of Alzheimer's Disease
- Publisher
- SAGE Publications
- Published
- 2016-06-22
- Volume
- 53
- Issue
- 1
- Pages
- 73-78
- ISSN
- 1387-2877 (ISSN-L)
- 1875-8908
- OpenAlex
- W2344102271
- Cited by
- 4
- References
- 0
- Citations by year
- 2022: 2 · 2018: 2
- FWCI
- 0.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Alzheimer s Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- presenilin 2
- MeSH terms
- Aged, Alzheimer Disease, DNA Mutational Analysis, Family Health, Female, Glycine, Humans, Male, Middle Aged, Mutation, Neuropsychological Tests, Phenotype, Psychiatric Status Rating Scales, Valine, Age of Onset, Polymorphism, Single Nucleotide, Presenilin-2
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