Evidence map›Paper›PMID 39406511›Full record

ArticleAJNR. American journal of neuroradiology2025

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.

Ludovica Pasca, Filippo Arrigoni, Romina Romaniello, Maria Savina Severino, Davide Politano, Fulvio D'Abrusco, Jessica Garau, Valentina De Giorgis, Adriana Carpani, Sabrina Signorini and 11 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in AJNR. American journal of neuroradiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

21 authors.

Ludovica PascaFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.
Filippo ArrigoniRadiology and Neuroradiology Department (F.A.), Vittore Buzzi Children's Hospital, Milan, Italy.ORCID 0000-0002-5508-1149
Romina RomanielloChild Neurology and Psychiatry Unit (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.), IRCCS Mondino Foundation, Pavia, Italy romina.romaniello@mondino.it.ORCID 0000-0002-8709-6732
Maria Savina SeverinoNeuroradiology Unit (M.S.S.), IRCCS Istituto Giannina Gaslini, Genova, Italy.ORCID 0000-0003-4730-5322
Davide PolitanoFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.ORCID 0000-0002-3795-1972
Fulvio D'AbruscoFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.
Jessica GarauNeurogenetics Research Center (J.G., E.M.V.), IRCCS Mondino Foundation, Pavia, Italy.
Valentina De GiorgisFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.
Adriana CarpaniChild Neurology and Psychiatry Unit (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.), IRCCS Mondino Foundation, Pavia, Italy.
Sabrina SignoriniChild Neurology and Psychiatry Unit (L.P., R.R., D.P., V.D.G., A.C., S.S., S.O., R.B.), IRCCS Mondino Foundation, Pavia, Italy.
Simona OrcesiFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.ORCID 0000-0001-8947-9342
Felice D'ArcoDepartment of Radiology (F.D.), Neuroradiology Unit, Great Ormond Street Hospital for Children, London, United Kingdom.ORCID 0000-0001-7396-591X
Enrico AlfeiPediatric Neurology Unit (E.A.), and Department of Pediatrics, Vittore Buzzi Children's Hospital, Milan, Italy.
Elisa CattaneoClinical Genetics Unit (E.C.), Department of Pediatrics, Vittore Buzzi Children's Hospital, Milan, Italy.
Elisa RognoneDepartment of Neuroradiology (E.R., A.P.), Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy.
Sara UccellaDepartment of Neurosciences (S.U.), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.ORCID 0000-0003-4164-2125
Maria Teresa DiviziaGenomics and Clinical Genetics Unit (M.T.D., P.I.), IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Paolo InfantinoGenomics and Clinical Genetics Unit (M.T.D., P.I.), IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Enza Maria ValenteFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.
Renato BorgattiFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.ORCID 0000-0001-8165-4994
Anna PichiecchioFrom the Departments of Brain and Behavioral Sciences (L.P., D.P., V.D.G., S.O., R.B., A.P.), and Molecular Medicine (F.D., E.M.V.), University of Pavia, Pavia, Italy.ORCID 0000-0002-5654-4088

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background and purposeCerebellar heterotopia (CH) is a neuroradiologic abnormality that is poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and syndromic conditions. This study aims to provide a comprehensive neuroradiologic, clinical, and genetic characterization of a cohort of pediatric patients with CH. MATERIALS AND

methodsPatients with a diagnosis of CH were systematically selected from the neuroimaging databases of the 4 Italian centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic, and neuroradiologic data was collected.

resultsThirty-two pediatric patients were recruited and subdivided into 2 groups: patients with isolated CH and/or cerebellar malformations (

conclusionsWe found distinctive neuroradiologic patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphologic and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.

Indexed as

CerebellumAdolescentCerebellar DiseasesChildChild, PreschoolChoristomaFemaleHumansInfantItalyMagnetic Resonance ImagingMaleRetrospective Studies

Identifiers

PMID39406511
PMCPMC11735438

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