Evidence map›Paper›PMID 34298918›Full record

ArticleInternational journal of molecular sciences2021

Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.

Luca Marsili, Jennifer Sharma, Alberto J Espay, Alice Migazzi, Elhusseini Abdelghany, Emily J Hill, Kevin R Duque, Matthew C Hagen, Christopher D Stephen, Gabor G Kovacs and 5 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 30% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

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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

15 authors at 7 institutions in 5 countries.

Luca MarsiliGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-6438-9911
Jennifer SharmaGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.
Alberto J EspayGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.
Alice MigazziLaboratory of Transcriptional Neurobiology, Department of Cellular, Computational and Integrative Biology-CIBIO, University of Trento, 38123 Trento, Italy.ORCID 0000-0002-0851-2903
Elhusseini AbdelghanyGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0001-7979-0065
Emily J HillGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.
Kevin R DuqueGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0002-5981-3140
Matthew C HagenDepartment of Pathology, University of Cincinnati, Cincinnati, OH 45219, USA.
Christopher D StephenAtaxia Center, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.ORCID 0000-0002-4727-192X
Gabor G KovacsTanz Centre for Research in Neurodegenerative Disease (CRND), Department of Laboratory Medicine and Pathobiology, University of Toronto, 60 Leonard Ave, Krembil Discovery Tower, Toronto, ON M5T 0S8, Canada.ORCID 0000-0003-3841-5511
Anthony E LangEdmond J. Safra Program in Parkinson's Disease, Rossy Progressive Supranuclear Palsy Program and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada.
Marios HadjivassiliouAcademic Department of Neurosciences, Royal Hallamshire Hospital, University of Sheffield, Sheffield S10 2JF, UK.ORCID 0000-0003-2542-8954
Manuela BassoLaboratory of Transcriptional Neurobiology, Department of Cellular, Computational and Integrative Biology-CIBIO, University of Trento, 38123 Trento, Italy.
Marcelo A KauffmanConsultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología José María Ramos Mejía, Buenos Aires C1221ADC, Argentina.
Andrea SturchioGardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45219, USA.
University of Cincinnati · USUniversity of Trento · ITHarvard University · USHospital Ramos Mejía · ARRoyal Hallamshire Hospital · GBUniversity Health Network · CAUniversity of Toronto · CA

Funding

Private funds at University of Cincinnati and University of Toronto none
6 · The paper itself

Abstract

The gold standard for classification of neurodegenerative diseases is postmortem histopathology; however, the diagnostic odyssey of this case challenges such a clinicopathologic model. We evaluated a 60-year-old woman with a 7-year history of a progressive dystonia-ataxia syndrome with supranuclear gaze palsy, suspected to represent Niemann-Pick disease Type C. Postmortem evaluation unexpectedly demonstrated neurodegeneration with 4-repeat tau deposition in a distribution diagnostic of progressive supranuclear palsy (PSP). Whole-exome sequencing revealed a new heterozygous variant in

Indexed as

FemaleHumansMiddle AgedNeurodegenerative DiseasesPhenotypeSpinocerebellar AtaxiasSupranuclear Palsy, Progressivetau ProteinsTransglutaminasestau ProteinsTransglutaminasescerebellar ataxiamovement disordersneurogeneticspostmortem

Identifiers

PMID34298918
PMCPMC8329925
OpenAlexW3178430645

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.