Evidence map›Paper›PMID 42823745›Full record

ArticleMolecular neurodegeneration2026

In vivo detection of pathologic α- synuclein and TDP-43 in the skin and olfactory mucosa of a patient with Parkinson's disease-like phenotype carrying the p.Thr272Serfs*10 GRN mutation.

Paola Caroppo, Vittoria Aprea, Cristina Villa, Ilaria Linda Dellarole, Aurora Romeo, Giacomina Rossi, Arianna Ciullini, Anna Burato, Sara Prioni, Marina Grisoli and 6 more

Abstract readCase ReportsLetter
PubMed Publisher
In one paragraph

Article in Molecular neurodegeneration, 2026. 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
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.

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

16 authors.

Paola CaroppoNeurology 8 - Dementia and Degenerative Diseases of CNS Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. paola.caroppo@istituto-besta.it.
Vittoria ApreaNeurology 8 - Dementia and Degenerative Diseases of CNS Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Cristina VillaNeurology 8 - Dementia and Degenerative Diseases of CNS Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ilaria Linda DellaroleSSD Laboratory Medicine-Laboratory of Clinical Pathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Aurora RomeoNeurology 8 - Dementia and Degenerative Diseases of CNS Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Giacomina RossiNeurology 8 - Dementia and Degenerative Diseases of CNS Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Arianna CiulliniSSD Laboratory Medicine-Laboratory of Clinical Pathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Anna BuratoLaboratory of Prion Biology, Department of Neuroscience, Scuola Internazionale Superiore Di Studi Avanzati (SISSA), Trieste, Italy.
Sara PrioniClinical Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Marina GrisoliNeuroradiology Unit - Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Giuseppe LegnameLaboratory of Prion Biology, Department of Neuroscience, Scuola Internazionale Superiore Di Studi Avanzati (SISSA), Trieste, Italy.
Giulia SimminiNeurology 8 - Dementia and Degenerative Diseases of CNS Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Alessia LuppinoNeurology 1 Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Samanta MazzettiNeurology 1 Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Fabio ModaSSD Laboratory Medicine-Laboratory of Clinical Pathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Grazia DevigiliNeurology 1 Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Funding

Ministero della Salute PNRR-MAD-2022-12376035Ministero della Salute PNRR-MCNT2-2023-12377336
6 · The paper itself

Abstract

We describe a patient carrying the GRN p.Thr272Serfs*10 mutation, who presented with parkinsonism at onset and later developed prodromal frontotemporal dementia, in whom seed amplification assay on olfactory mucosa and skin analyses suggest mixed TDP-43 and α-synuclein co-pathology, highlighting how combining these techniques could provide a comprehensive approach to investigate the underlying neuropathological process.

Indexed as

alpha-SynucleinDNA-Binding ProteinsOlfactory MucosaParkinson DiseaseProgranulinsSkinFemaleFrontotemporal DementiaHumansMaleMutationPhenotypealpha-SynucleinDNA-Binding ProteinsGRN protein, humanProgranulinsTARDBP protein, humanFrontotemporal dementiaFTDGRNParkinson’s diseaseSAASkin biopsyTDP-43α -synuclein

Identifiers

What Socratic holds

Textmetadata
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.