Evidence map›Paper›PMID 33754963›Full record

ReviewNeurocase2021

Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature.

James Rini, Breton Asken, Ethan Geier, Katherine Rankin, Joel Kramer, Adam Boxer, Bruce Miller, Jennifer Yokoyama, Salvatore Spina

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

Review in Neurocase, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 35% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Diagnosis and Management of Progressive Corticobasal Syndrome.Current treatment options in neurology · 2024
    Article
  2. Pathomechanisms of cognitive and behavioral impairment in corticobasal degeneration.Journal of neural transmission (Vienna, Austria : 1996) · 2023
    Review
  3. 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

9 authors at 1 institution in 1 country.

James RiniMemory and Aging Center, University of California, San Francisco, CA, United States.
Breton AskenMemory and Aging Center, University of California, San Francisco, CA, United States.ORCID 0000-0001-8419-142X
Ethan GeierMemory and Aging Center, University of California, San Francisco, CA, United States.
Katherine RankinMemory and Aging Center, University of California, San Francisco, CA, United States.
Joel KramerMemory and Aging Center, University of California, San Francisco, CA, United States.
Adam BoxerMemory and Aging Center, University of California, San Francisco, CA, United States.
Bruce MillerMemory and Aging Center, University of California, San Francisco, CA, United States.
Jennifer YokoyamaMemory and Aging Center, University of California, San Francisco, CA, United States.
Salvatore SpinaMemory and Aging Center, University of California, San Francisco, CA, United States.
University of California, San Francisco · US

Funding

TDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2M
Research Education ComponentP30AG062422 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Gil Dan Rabinovici · 2019 to 2026
$36.9M
The Four Repeat Tauopathy Neuroimaging InitiativeR01AG038791 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BOXER, ADAM L. · 2010 to 2020
$18.1M
Mechanisms of Executive Decline in Normal AgingR01AG032289 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Kaitlin B Casaletto, JOEL H KRAMER · 2009 to 2026
$8.3M
Effects of chronic inflammation on brain structure and functionR01AG048234 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KRAMER, JOEL H · 2015 to 2019
$3.2M
Neuropathological basis of brain network dysfunctionK08AG052648 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SPINA, SALVATORE · 2016 to 2020
$852k
NIA NIH HHS K08 AG052648NIA NIH HHS P01 AG019724NIA NIH HHS P30 AG062422NIA NIH HHS R01 AG032289NIA NIH HHS R01 AG038791NIA NIH HHS R01 AG048234
6 · The paper itself

Abstract

Though distinct pathological entities, corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) share multiple biochemical and genetic features suggesting overlapping pathophysiology. We report the case of a patient with an 18-year clinical course consistent with behavioral variant frontotemporal dementia. The neuropathological assessment revealed unclassifiable frontotemporal lobar degeneration with tau-immunoreactive inclusions sharing features of both CBD and PSP. Whole-genome sequencing revealed a unique combination of pleiotropic genetic risk variants associated with both PSP and CBD. These findings support the observation that CBD and PSP share genetic co-expression networks that influence neurodegenerative pathogenesis common to 4R tauopathies.

Indexed as

Alzheimer DiseaseSupranuclear Palsy, ProgressiveTauopathiesGenetic PleiotropyHumanstau Proteinstau ProteinsatypicalCorticobasal degenerationfrontotemporal dementiageneticsneuropathologypleiotropyprogressive supranuclear palsy

Identifiers

PMID33754963
PMCPMC8137543
OpenAlexW3136017152

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.