Evidence map›Paper›PMID 40009086›Full record

ArticleEJNMMI research2025

Hypometabolism and atrophy patterns associated with Niemann-Pick type C.

Jesús Silva-Rodríguez, Cristina Castro, Julia Cortés, Manuel Arias, Virginia Pubul, Alexis Moscoso, Michel J Grothe, Gabriel Reynes-Llompart, Laura Rodríguez-Bel, Jordi Gascon-Bayarri and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in EJNMMI research, 2025. 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

12 authors.

Jesús Silva-Rodríguez *Reina Sofia Alzheimer Centre, CIEN Foundation, ISCIII, Madrid, Spain.
Cristina Castro *Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Julia CortésNuclear Medicine Department and Molecular Imaging Group, University Hospital of Santiago de Compostela, IDIS, Travesía da Choupana s/n, Santiago de Compostela, Spain.
Manuel AriasNeurology Department, University Hospital of Santiago de Compostela, Galicia, Spain.
Virginia PubulNuclear Medicine Department and Molecular Imaging Group, University Hospital of Santiago de Compostela, IDIS, Travesía da Choupana s/n, Santiago de Compostela, Spain.
Alexis MoscosoNuclear Medicine Department and Molecular Imaging Group, University Hospital of Santiago de Compostela, IDIS, Travesía da Choupana s/n, Santiago de Compostela, Spain.
Michel J GrotheReina Sofia Alzheimer Centre, CIEN Foundation, ISCIII, Madrid, Spain.
Gabriel Reynes-LlompartDepartment of Medical Physics, Hospital Universitari de Bellvitge-ICO L'Hospitalet (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Laura Rodríguez-BelUnidad PET IDI, Servicio de Medicina Nuclear, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.
Jordi Gascon-BayarriNeurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Catalonia, Spain. jordigneuro@bellvitgehospital.cat.
María Jesús SobridoNeurogenetics Research Group, Institute of Biomedical Research (INIBIC), University Hospital of A Coruña, Galicia, Spain. ssobrido@gmail.com.
Pablo AguiarCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. pablo.aguiar@usc.es.ORCID http://orcid.org/0000-0002-7322-2195

Funding

Interreg EAPA_791/2018
6 · The paper itself

Abstract

backgroundNiemann-Pick disease type C (NP-C) is a rare genetic lysosomal lipid storage disorder characterized by progressive neurological impairment. Early diagnosis is critical for initiating treatment with miglustat, which can decelerate disease progression. In this study, we evaluated a cohort of 22 NP-C patients who underwent MRI, [

resultsGroup-level MRI analysis identified significant cerebellar and thalamic atrophy (d = 1.56, p < 0.0001 and d = 1.09, p < 0.001, respectively), with less pronounced involvement of the frontal lobe and hippocampus, which aligned with existing neuropathological understanding and guidelines. Conversely, [

conclusionsOur findings delineate a discernible hypometabolism pattern specific to NP-C that distinguishes it from other neurodegenerative conditions, thus suggesting that [

trial registrationXUNTA 2015/140. Registered 21 April 2015.

Identifiers

PMID40009086
PMCPMC11865420

What OpenQuestion 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 OpenQuestion graph.