Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Abstract Bi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative disorder of the central white matter. Only seven molecularly proven cases with antenat...

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Bibliographic Details
Main Authors: Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Acta Neuropathologica Communications
Subjects:
Vanishing white matter disease
Foetal neuropathology
Whole exome sequencing
Diagnosis
Pathophysiology
Online Access:http://link.springer.com/article/10.1186/s40478-020-00929-2

Internet

http://link.springer.com/article/10.1186/s40478-020-00929-2

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