Literature DB >> 27184462

Cerebellar disruptions and neurodevelopmental disabilities.

Thangamadhan Bosemani1, Andrea Poretti2.   

Abstract

The vulnerability of the cerebellum during prenatal life to disruptive events such as hemorrhage and infection leads to a wide variety of morphological abnormalities. This review discusses various prenatal cerebellar disruptions including cerebellar agenesis, unilateral cerebellar hypoplasia, cerebellar cleft, global cerebellar hypoplasia, and vanishing cerebellum in Chiari type II malformation. For each entity, we discuss the definition, potential pathomechanism, clinical findings including neurocognitive and behavioral problems, neuroimaging features, and management. Accurate recognition of cerebellar disruptions and their differentiation from malformations is important in terms of diagnosis, prognosis, and genetic counselling.
Copyright © 2016 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Cerebellum; Disability; Disruption; Magnetic resonance imaging; Neurodevelopment; Prenatal

Mesh:

Year:  2016        PMID: 27184462     DOI: 10.1016/j.siny.2016.04.014

Source DB:  PubMed          Journal:  Semin Fetal Neonatal Med        ISSN: 1744-165X            Impact factor:   3.926


  5 in total

1.  Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

Authors:  Silke Redler; Tim M Strom; Thomas Wieland; Kirsten Cremer; Hartmut Engels; Felix Distelmaier; Jörg Schaper; Alma Küchler; Johannes R Lemke; Stephanie Jeschke; Nicole Schreyer; Heinrich Sticht; Margarete Koch; Hermann-Josef Lüdecke; Dagmar Wieczorek
Journal:  Eur J Hum Genet       Date:  2017-04-19       Impact factor: 4.246

2.  The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).

Authors:  Emma D Burdekin; Brent L Fogel; Shafali S Jeste; Julian Martinez; Jessica E Rexach; Charlotte DiStefano; Carly Hyde; Tabitha Safari; Rujuta B Wilson
Journal:  J Child Neurol       Date:  2020-07-24       Impact factor: 1.987

3.  Biometry of the Cerebellar Vermis and Brain Stem in Children: MR Imaging Reference Data from Measurements in 718 Children.

Authors:  C Jandeaux; G Kuchcinski; C Ternynck; A Riquet; X Leclerc; J-P Pruvo; G Soto-Ares
Journal:  AJNR Am J Neuroradiol       Date:  2019-10-17       Impact factor: 3.825

Review 4.  Diagnostic Approach to Cerebellar Hypoplasia.

Authors:  Andrea Accogli; Nassima Addour-Boudrahem; Myriam Srour
Journal:  Cerebellum       Date:  2021-02-03       Impact factor: 3.847

5.  Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.

Authors:  Floriana Costanzo; Ginevra Zanni; Elisa Fucà; Margherita Di Paola; Sabina Barresi; Lorena Travaglini; Giovanna Stefania Colafati; Antonio Gambardella; Emanuele Bellacchio; Enrico Bertini; Deny Menghini; Stefano Vicari
Journal:  Int J Environ Res Public Health       Date:  2022-01-22       Impact factor: 3.390

  5 in total

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