AUTHOR=Scorrano Giovanna , Battaglia Laura , Spiaggia Rossana , Basile Antonio , Palmucci Stefano , Foti Pietro Valerio , David Emanuele , Marinangeli Franco , Mascilini Ilaria , Corsello Antonio , Comisi Francesco , Vittori Alessandro , Salpietro Vincenzo 

TITLE=Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

JOURNAL=Frontiers in Neurology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1301147

DOI=10.3389/fneur.2023.1301147

ISSN=1664-2295

ABSTRACT=<p>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 <italic>PRUNE1</italic> variants have been identified in patients with neurodevelopmental disorders, hypotonia, microcephaly, variable cerebral anomalies, and other features. <italic>PRUNE1</italic> 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 <italic>PRUNE1</italic> 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.</p>