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

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.

SUBMITTER: Scorrano G

PROVIDER: S-EPMC10764560 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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

Scorrano Giovanna G Laura Battaglia B Spiaggia Rossana R Basile Antonio A Palmucci Stefano S Foti Pietro Valerio PV David Emanuele E Marinangeli Franco F Mascilini Ilaria I Corsello Antonio A Comisi Francesco F Comisi Francesco F Vittori Alessandro A Salpietro Vincenzo V

Frontiers in neurology 20231221

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 <i>PRUNE1</i> variants have been identified in patients with neurodevelopmental disorders, hypotonia, microcephaly, variable cerebral anomalies, and other features. <i> ...[more]

PMID: 38178891

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Project description:IntroductionCore psychopathy is characterized by grandiosity, callousness, manipulativeness, and lack of remorse, empathy, and guilt. It is often comorbid with conduct disorder and antisocial personality disorder (ASPD). Psychopathy is present in forensic as well as prison and general populations. In recent years, an increasing amount of neuroimaging studies has been conducted in order to elucidate the obscure neurobiological etiology of psychopathy. The studies have yielded heterogenous results, and no consensus has been reached.AimsThis study systematically reviewed and qualitatively summarized functional and structural neuroimaging studies conducted on individuals with psychopathic traits. Furthermore, this study aimed to evaluate whether the findings from different MRI modalities could be reconciled from a neuroanatomical perspective.Materials and methodsAfter the search and auditing processes, 118 neuroimaging studies were included in this systematic literature review. The studies consisted of structural, functional, and diffusion tensor MRI studies.ResultsPsychopathy was associated with numerous neuroanatomical abnormalities. Structurally, gray matter anomalies were seen in frontotemporal, cerebellar, limbic, and paralimbic regions. Associated gray matter volume (GMV) reductions were most pronounced particularly in most of the prefrontal cortex, and temporal gyri including the fusiform gyrus. Also decreased GMV of the amygdalae and hippocampi as well the cingulate and insular cortices were associated with psychopathy, as well as abnormal morphology of the hippocampi, amygdala, and nucleus accumbens. Functionally, psychopathy was associated with dysfunction of the default mode network, which was also linked to poor moral judgment as well as deficient metacognitive and introspective abilities. Second, reduced white matter integrity in the uncinate fasciculus and dorsal cingulum were associated with core psychopathy. Third, emotional detachment was associated with dysfunction of the posterior cerebellum, the human mirror neuron system and the Theory of Mind denoting lack of empathy and persistent failure in integrating affective information into cognition.ConclusionsStructural and functional aberrancies involving the limbic and paralimbic systems including reduced integrity of the uncinate fasciculus appear to be associated with core psychopathic features. Furthermore, this review points towards the idea that ASPD and psychopathy might stem from divergent biological processes.

Project description:BackgroundPallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the GLI3 gene. The cardinal feature of Pallister-Hall syndrome is the presence of hypothalamic hamartomas, which may manifest with seizures, panhypopituitarism and visual impairment. In Pallister-Hall syndrome, dysplastic histogenetic processes responsible for hypothalamic hamartomas are thought to disrupt early craniofacial development. The clinical presentation of Pallister-Hall syndrome may include: characteristic facies (low-set and posteriorly angulated ears, short nose with flat nasal bridge), cleft palate and uvula, bifid epiglottis and laryngotracheal cleft, limb anomalies (e.g., polysyndactyly, short limbs and nail dysplasia), anal atresia, genitourinary abnormalities and congenital heart defects.Case presentationWe report the case of two monochorionic diamniotic twins diagnosed with Pallister-Hall syndrome during the neonatal period, after the identification of a hypothalamic hamartoma on day 1 by cerebral ultrasound scan, later confirmed by brain magnetic resonance imaging. Cerebral ultrasound and magnetic resonance imaging presentations were identical in both twins.Discussion and conclusionsWe review previously published cases (four reports) of hypothalamic hamartomas identified via cerebral ultrasound and compare reported ultrasonographic features. Main differential diagnoses based on cerebral ultrasound findings are discussed. Full description of typical magnetic resonance imaging appearance is also provided. This is the first case reported in the literature of monochorionic diamniotic twins affected by genetically confirmed Pallister-Hall syndrome with identical hypothalamic hamartomas at cerebral ultrasound and magnetic resonance imaging. Moreover, this paper adds to the existing literature on the sonographic appearance of hypothalamic hamartomas. Considering the consistency in hypothalamic hamartomas' sonographic appearance, we support the use of cerebral ultrasound as a first-line neuroimaging modality in case of clinical suspicion of Pallister-Hall syndrome.

Dataset Information

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

Publications

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

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