Evidence map›Paper›PMID 37434948›Full record

ArticleFrontiers in genetics2023

Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.

Clemente Dato, Emanuele Micaglio, Giada Moresco, Ornella Rondinone, Paolo Vitali, Carlo Pappone, Laura Fontana, Monica Miozzo, Luciano Bet

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

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 89% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 2 institutions in 1 country.

Clemente DatoUnit of Neurology and Stroke Unit, IRCCS Policlinico San Donato, Milan, Italy.
Emanuele MicaglioDepartment of Arrhythmology, IRCCS Policlinico San Donato, Milan, Italy.
Giada MorescoMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Ornella RondinoneMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Paolo VitaliDepartment of Biomedical Sciences for Health, University of Milan, Milan, Italy.
Carlo PapponeDepartment of Arrhythmology, IRCCS Policlinico San Donato, Milan, Italy.
Laura FontanaMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Monica MiozzoMedical Genetics, Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Luciano BetUnit of Neurology and Stroke Unit, IRCCS Policlinico San Donato, Milan, Italy.
University of Milan · ITIRCCS Policlinico San Donato · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe the case of a young woman affected by debilitating chorea and rapidly progressive cognitive decline. While her original diagnosis was multiple sclerosis, we performed a full instrumental and genetic assessement, though which we identified multiple genetic variants, including a novel variant of the APP gene. We propose some possible mechanisms by which such variants may contribute to neuroinflammation and ultimately lead to this devastating clinical course.

Indexed as

choreachorea (non-Huntington’s)cognitive declinemultiple sclerosisneuroinflammation

Identifiers

PMID37434948
PMCPMC10331612
OpenAlexW4382023912

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.