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=Volume 14 - 2023

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=This is a provisional file, not the final typeset article Prune exopolyphosphatase 1 (PRUNE1) is a short chain phosphatase, part of the aspartic acid-histidinehistidine (DHH) family proteins. PRUNE1 is highly expressed in the central nervous system and crucially involved in neurodevelopment, cytoskeleton rearrangement, cellular migration and proliferation. Recently, biallelic PRUNE1 variants have been identified in patients with neurodevelopmental disorder, hypotonia, microcephaly, variable cerebral anomalies, and other features. PRUNE1 hypomorphic mutations mainly affect DHH1 domain, leading to an impactful decrease of the enzymatic activity, with a loss of function mechanism. In this review, we explored both 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 to best characterize children affected, with diagnostic and potential prognostic implications.