Evidence map›Paper›PMID 33226734›Full record

Observational studyAlzheimer's & dementia : the journal of the Alzheimer's Association2021

Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.

Jorge J Llibre-Guerra, Yan Li, Ricardo F Allegri, Patricio Chrem Mendez, Ezequiel I Surace, Juan J Llibre-Rodriguez, Ana Luisa Sosa, Carmen Aláez-Verson, Erika-Mariana Longoria, Alberto Tellez and 18 more

Abstract readObservational Study
In one paragraph

Observational study in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. A call for clinical trial globalization in Alzheimer's disease and related dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023
    Article
  12. Article
  13. Article
  14. Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.International journal of molecular sciences · 2022
    Review
  15. Review
  16. Article
  17. Article
  18. Culture, Ethnicity, and Level of Education in Alzheimer's Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022
    Review
  19. Frontiers in aging neuroscience · 2022
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors.

Jorge J Llibre-GuerraDepartment of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.
Yan LiDepartment of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.
Ricardo F AllegriDepartment of Cognitive Neurology, Institute for Neurological Research Fleni, Buenos Aires, Argentina.
Patricio Chrem MendezDepartment of Cognitive Neurology, Institute for Neurological Research Fleni, Buenos Aires, Argentina.
Ezequiel I SuraceDepartment of Cognitive Neurology, Institute for Neurological Research Fleni, Buenos Aires, Argentina.
Juan J Llibre-RodriguezUniversidad de Ciencias Medicas de la Habana, Havana, Cuba.
Ana Luisa SosaInstituto Nacional de Neurología y Neurocirugía, Ciudad de Mexico, Mexico City, Mexico.
Carmen Aláez-VersonLaboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Ciudad de México, México.
Erika-Mariana LongoriaInstituto Nacional de Neurología y Neurocirugía, Ciudad de Mexico, Mexico City, Mexico.
Alberto TellezInstituto Nacional de Neurología y Neurocirugía, Ciudad de Mexico, Mexico City, Mexico.
Karol Carrillo-SánchezLaboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Ciudad de México, México.
Luis Leonardo Flores-LagunesLaboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Ciudad de México, México.
Victor SánchezDepartment of Neurology, Hospital das Clinicas, University of São Paulo Medical School, São Paulo, Brazil.
Leonel Tadao TakadaGeneral Hospital of Fortaleza, Fortaleza, Brazil.
Ricardo NitriniGeneral Hospital of Fortaleza, Fortaleza, Brazil.
Norberto Anizio Ferreira-FrotaGrupo de Neurociencias de Antioquia, Medellín, Colombia.
Joyce Benevides-LimaGrupo de Neurociencias de Antioquia, Medellín, Colombia.
Francisco LoperaUniversity of Puerto Rico School of Medicine, San Juan, Puerto Rico, USA.
Laura RamírezUniversity of Puerto Rico School of Medicine, San Juan, Puerto Rico, USA.
Ivonne Jiménez-VelázquezUniversidad Nacional Pedro Henríquez Ureña, Santo Domingo, Republica Dominicana.
Christian SchenkUniversidad Nacional Pedro Henríquez Ureña, Santo Domingo, Republica Dominicana.
Daisy AcostaDepartamento de Neurología y Neurocirugía Hospital Clínico, Departamento de Neurociencias, Centro de Investigación Clínica Avanzada (CICA), Universidad de Chile & Clínica Alemana, Santiago, Chile.
María Isabel BehrensBecker Medical Library, Washington University School of Medicine, St. Louis, Missouri, USA.
Michelle DoeringDepartment of Biostatistics, Washington University in St. Louis, St. Louis, Missouri, USA.
Ellen ZiegemeierDepartment of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.
John C MorrisDepartment of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.
Eric McDadeDepartment of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.
Randall J BatemanDepartment of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.

Funding

Imaging CoreU19AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2010 to 2025
$53.9M
Dominantly Inherited Alzheimer NetworkUF1AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2014 to 2017
$21.6M
NIA NIH HHS U19 AG032438NIA NIH HHS UF1 AG032438
6 · The paper itself

Abstract

introductionA growing number of dominantly inherited Alzheimer's disease (DIAD) cases have become known in Latin American (LatAm) in recent years. However, questions regarding mutation distribution and frequency by country remain open.

methodsA literature review was completed aimed to provide estimates for DIAD pathogenic variants in the LatAm population. The search strategies were established using a combination of standardized terms for DIAD and LatAm.

resultsTwenty-four DIAD pathogenic variants have been reported in LatAm countries. Our combined dataset included 3583 individuals at risk; countries with highest DIAD frequencies were Colombia (n = 1905), Puerto Rico (n = 672), and Mexico (n = 463), usually attributable to founder effects. We found relatively few reports with extensive documentation on biomarker profiles and disease progression. DISCUSSION: Future DIAD studies will be required in LatAm, albeit with a more systematic approach to include fluid biomarker and imaging studies. Regional efforts are under way to extend the DIAD observational studies and clinical trials to Latin America.

Indexed as

Alzheimer DiseaseGenetic HeterogeneityGenetic Predisposition to DiseasePhenotypeGenes, DominantHumansLatin AmericaMutation

Identifiers

PMID33226734
PMCPMC8140610

What OpenQuestion holds

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Registered trials

None linked

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.