ArticleMolecular genetics & genomic medicine2014
Disease-related mutations among Caribbean Hispanics with familial dementia.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research.Frontiers in neurology · 2021Pooled it
- Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.Clinical interventions in aging · 2015Pooled it
- Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.Journal of Alzheimer's disease : JAD · 2026Article
- Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.medRxiv : the preprint server for health sciences · 2024Article
- Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.International journal of molecular sciences · 2024Article
- Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Alzheimer's disease and Alzheimer's disease-related dementias in Hispanics: Identifying influential factors and supporting caregivers.Ageing research reviews · 2024Review
- Potential Modifying Effect of theInternational journal of molecular sciences · 2023Article
- Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.International journal of molecular sciences · 2023Article
- Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.International journal of molecular sciences · 2022Article
- Progranulin mutations in clinical and neuropathological Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Psychosis in a Middle-aged Woman: A Case of Presenilin-1 p.Gly206Ala Alzheimer Disease.Neurology. Clinical practice · 2021Article
- Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2021Observational
- Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.Neurotoxicity research · 2020Review
- Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.Annals of clinical and translational neurology · 2018Article
- Genetics of dementia in a Finnish cohort.European journal of human genetics : EJHG · 2018Article
- Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.Dementia and geriatric cognitive disorders · 2018Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
Pathogenic mutations in the three known genes - the amyloid precursor protein (APP), presenilin 1 (PSEN1), presenilin 2 (PSEN2) - are known to cause familial Alzheimer's disease (AD) and tend to be associated with early-onset AD. However, the frequency and risk associated with these mutations vary widely. In addition, mutations in the frontotemporal lobar degeneration (FTLD) genes - the microtubule-associated protein tau (MAPT), granulin (GRN) - have also been found to be associated with clinical AD. Here, we conducted targeted resequencing of the exons in genes encoding APP, PSEN1, PSEN2, GRN, and MAPT in 183 individuals from families with four or more affected relatives, presumed to be AD, and living in the Dominican Republic and Puerto Rico. We then performed linkage and family-based association analyses in carrier families, and genotyped 498 similarly aged unrelated controls from the same ethnic background. Twelve potentially pathogenic mutations were found to be associated with disease in 53 individuals in the five genes. The most frequently observed mutation was the p.Gly206Ala variant in PSEN1 present in 30 (57%) of those sequenced. In the combined linkage and association analyses several rare variants were associated with dementia. In Caribbean Hispanics with familial AD, potentially pathogenic variants were present in 29.2%, four were novel mutations, while eight had been previously observed. In addition, some family members carried variants in the GRN and MAPT genes which are associated with FTLD.
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