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Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano, Giovanna; Laura, Battaglia; Spiaggia, Rossana; Basile, Antonio; Palmucci, Stefano; Foti, Pietro Valerio; David, Emanuele; Marinangeli, Franco; Mascilini, Ilaria; Corsello, Antonio; Comisi, Francesco; Vittori, Alessandro; Salpietro, Vincenzo.
Afiliación
  • Scorrano G; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
  • Laura B; Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinic "G. Rodolico-San Marco", Catania, Italy.
  • Spiaggia R; Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinic "G. Rodolico-San Marco", Catania, Italy.
  • Basile A; Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinic "G. Rodolico-San Marco", Catania, Italy.
  • Palmucci S; Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinic "G. Rodolico-San Marco", Catania, Italy.
  • Foti PV; Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinic "G. Rodolico-San Marco", Catania, Italy.
  • David E; Department of Medical Surgical Sciences and Advanced Technologies "GF Ingrassia", University Hospital Policlinic "G. Rodolico-San Marco", Catania, Italy.
  • Marinangeli F; Department of Anesthesia, Critical Care and Pain Therapy, University of L'Aquila, L'Aquila, Italy.
  • Mascilini I; Department of Anesthesia and Critical Care, ARCO ROMA, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.
  • Corsello A; Pediatrics Department, Ospedale Microcitemico, Cagliari, Italy.
  • Comisi F; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Vittori A; Department of Anesthesia and Critical Care, ARCO ROMA, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.
  • Salpietro V; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Front Neurol ; 14: 1301147, 2023.
Article en En | MEDLINE | ID: mdl-38178891
ABSTRACT
Prune exopolyphosphatase 1 (PRUNE1) is a short-chain phosphatase that is part of the aspartic acid-histidine-histidine (DHH) family of proteins. PRUNE1 is highly expressed in the central nervous system and is crucially involved in neurodevelopment, cytoskeletal rearrangement, cell migration, and proliferation. Recently, biallelic PRUNE1 variants have been identified in patients with neurodevelopmental disorders, hypotonia, microcephaly, variable cerebral anomalies, and other features. PRUNE1 hypomorphic mutations mainly affect the DHH1 domain, leading to an impactful decrease in enzymatic activity with a loss-of-function mechanism. In this review, we explored both the clinical and radiological spectrum related to PRUNE1 pathogenic variants described to date. Specifically, we focused on neuroradiological findings that, together with clinical phenotypes and genetic data, allow us to best characterize affected children with diagnostic and potential prognostic implications.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza