ArticleJournal of Alzheimer's disease : JAD2013
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.
Article in Journal of Alzheimer's disease : JAD, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- RBFOX1 association with age at onset of Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- 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
- The neuropathological landscape of Hispanic and non-Hispanic White decedents with Alzheimer disease.Acta neuropathologica communications · 2023Article
- A global view of the genetic basis of Alzheimer disease.Nature reviews. Neurology · 2023Review
- Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.Journal of Alzheimer's disease : JAD · 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
- Genetic Risk Factors for Alzheimer's Disease in Racial/Ethnic Minority Populations in the U.S.: A Scoping Review.Frontiers in public health · 2021Article
- Two Novel Mutations and aAging and disease · 2019Article
- Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools.Frontiers in genetics · 2019Article
- Article
- Alzheimer's Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health.Journal of Alzheimer's disease : JAD · 2017Review
- The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.American journal of neurodegenerative disease · 2016Article
- Profiling of Alzheimer's disease patients in Puerto Rico: A comparison of two distinct socioeconomic areas.SAGE open medicine · 2016Article
- Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.JAMA neurology · 2015Article
- Acetylated tau neuropathology in sporadic and hereditary tauopathies.The American journal of pathology · 2013Article
- Genetics of dementia: insights from Latin America.Dementia & neuropsychologiaReview
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
The frequency and clinical and pathological characteristics associated with the Gly206Ala presenilin 1 (PSEN1) mutation in Puerto Rican and non-Puerto Rican Hispanics were evaluated at the University of Pennsylvania's Alzheimer's Disease Center. DNAs from all cohort subjects were genotyped for the Gly206Ala PSEN1 mutation. Carriers and non-carriers with neurodegenerative disease dementias were compared for demographic, clinical, psychometric, and biomarker variables. Nineteen (12.6%) of 151 unrelated subjects with dementia were discovered to carry the PSEN1 Gly206Ala mutation. Microsatellite marker genotyping determined a common ancestral haplotype for all carriers. Carriers were all of Puerto Rican heritage with significantly younger age of onset, but otherwise were clinically and neuropsychologically comparable to those of non-carriers with AD. Three subjects had extensive topographic and biochemical biomarker assessments that were also typical of non-carriers with AD. Neuropathological examination in one subject revealed severe, widespread plaque and tangle pathology without other meaningful disease lesions. The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia. Considered together with the increased prevalence and mortality of AD reported in Puerto Rico, these high rates may reflect hereditary risk concentrated in the island which warrants further study.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.