Evidence map›Paper›PMID 27793474›Full record

ArticleNeurobiology of aging2017

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

Marissa Natelson Love, David G Clark, J Nicholas Cochran, Kyle A Den Beste, David S Geldmacher, Tammie L Benzinger, Brian A Gordon, John C Morris, Randall J Bateman, Erik D Roberson

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 32% of its field
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

2 citing papers in PubMed, 27 citations in OpenAlex.

  1. Review
  2. Review
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

10 authors at 3 institutions in 1 country.

Marissa Natelson LoveAlzheimer's Disease Center, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, Birmingham VA Medical Center, Birmingham, AL, USA.
David G ClarkAlzheimer's Disease Center, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, Birmingham VA Medical Center, Birmingham, AL, USA; Department of Neurology, Ralph H. Johnson VA Medical Center, Medical University of South Carolina, Charleston, SC, USA. Electronic address: clarkda@musc.edu.
J Nicholas CochranDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.
Kyle A Den BesteDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA.
David S GeldmacherAlzheimer's Disease Center, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; McKnight Brain Institute, University of Alabama at Birmingham, Birmingham, AL, USA.
Tammie L BenzingerDominantly Inherited Alzheimer's Network, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA.
Brian A GordonDominantly Inherited Alzheimer's Network, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA.
John C MorrisDominantly Inherited Alzheimer's Network, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Randall J BatemanDominantly Inherited Alzheimer's Network, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Erik D RobersonAlzheimer's Disease Center, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA; Center for Neurodegeneration and Experimental Therapeutics, University of Alabama at Birmingham, Birmingham, AL, USA; McKnight Brain Institute, University of Alabama at Birmingham, Birmingham, AL, USA.
University of Alabama at Birmingham · USMallinckrodt (United States) · USMedical University of South Carolina · US

Funding

Imaging CoreU19AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2010 to 2025
$53.9M
Washington University Institute of Clinical and Translational SciencesUL1TR000448 · NCATS · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2012 to 2016
$41.4M
Dominantly Inherited Alzheimer NetworkUF1AG032438 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2014 to 2017
$21.6M
THE XNAT IMAGING INFORMATICS PLATFORMR01EB009352 · NIBIB · WASHINGTON UNIVERSITY · PI Daniel Scott Marcus · 2009 to 2026
$9.3M
DOMINANTLY INHERITED ALZHEIMER NETWORK TRIAL: AN OPPORTUNITY TO PREVENT DEMENTIAU01AG042791 · NIA · WASHINGTON UNIVERSITY · PI BATEMAN, RANDALL J · 2013 to 2018
$8.9M
Mechanisms for the Benefit of Tau Reduction in Alzheimer Disease ModelsR01NS075487 · NINDS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI ROBERSON, ERIK D · 2011 to 2015
$1.6M
NCATS NIH HHS UL1 TR000448NIA NIH HHS U01 AG042791NIA NIH HHS U19 AG032438NIA NIH HHS UF1 AG032438NIBIB NIH HHS R01 EB009352NINDS NIH HHS R01 NS075487
6 · The paper itself

Abstract

We present 2 cases of early-onset Alzheimer's disease due to a novel N135Y mutation in PSEN1. The proband presented with memory and other cognitive symptoms at age 32. Detailed clinical characterization revealed initial deficits in memory with associated dysarthria, progressing to involve executive dysfunction, spastic gait, and episodic confusion with polyspike discharges on long-term electroencephalography. Amyloid- and FDG-PET scans showed typical results of Alzheimer's disease. By history, the proband's father had developed cognitive symptoms at age 42 and died at age 48. Neuropathological evaluation confirmed Alzheimer's disease, with moderate to severe amyloid angiopathy. Skeletal muscle showed type 2 fiber-predominant atrophy with pale central clearing. Genetic testing of the proband revealed an N135Y missense mutation in PSEN1. This mutation was predicted to be pathogenic by in silico analysis. Biochemical analysis confirmed that the mutation caused an increased Aβ42/Aβ40 ratio, consistent with other PSEN1 mutations and with a loss of presenilin function.

Indexed as

Genetic Association StudiesNeuroimagingAdultAlzheimer DiseaseAmyloid beta-PeptidesBrainElectroencephalographyFemaleGenetic TestingHumansMagnetic Resonance ImagingMiddle AgedMutationNeuropsychological TestsPositron-Emission TomographyPresenilin-1Amyloid beta-PeptidesPresenilin-1PSEN1 protein, humanAlzheimer's diseaseElecrtoencephalographyPET scanPresenilin 1

Identifiers

PMID27793474
PMCPMC5154842
OpenAlexW2528216338

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.