Literature DB >> 36255677

Neurological Consequences of Congenital Disorders of Glycosylation.

Justyna Paprocka1.   

Abstract

The chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG). At the beginning, the various types of CDG with neurological presentation of symptoms are summarized. Then, the occurrence of various neurological constellation of abnormalities (for example: epilepsy, brain anomalies on neuroimaging, ataxia, stroke-like episodes, autistic features) in different CDG types are discussed followed by data on possible biomarkers and limited treatment options.
© 2023. The Author(s), under exclusive license to Springer Nature Switzerland AG.

Entities:  

Keywords:  Biochemical markers; Brain abnormalities; Congenital disorders of glycosylation; Glycosphingolipids; Glycosylphosphatidylinositol anchor synthesis; N-linked glycosylation; Neurological presentation; O-linked glycosylation

Mesh：

Substances：

Year:  2023        PMID： 36255677     DOI： 10.1007/978-3-031-12390-0_8

Source DB:  PubMed          Journal:  Adv Neurobiol


  72 in total

1.  A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Authors:  Luigi Boccuto; Kazuhiro Aoki; Heather Flanagan-Steet; Chin-Fu Chen; Xiang Fan; Frank Bartel; Marharyta Petukh; Ayla Pittman; Robert Saul; Alka Chaubey; Emil Alexov; Michael Tiemeyer; Richard Steet; Charles E Schwartz
Journal:  Hum Mol Genet       Date:  2013-09-10       Impact factor: 6.150

2.  International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Authors:  Ruqaiah Altassan; Romain Péanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; María Eugenia de la Morena-Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; Thatjana Gardeitchik; Matthijs Gert; Muriel Girad; Marisa Giros; Stephanie Grünewald; Trinidad Hernández-Caselles; Tomas Honzik; Marlen Hutter; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques-de-Silva; Antonio F Martinez; Hossein Moravej; Katrin Õunap; Carlota Pascoal; Tiffany Pascreau; Marc Patterson; Dulce Quelhas; Kimiyo Raymond; Peymaneh Sarkhail; Manuel Schiff; Małgorzata Seroczyńska; Mercedes Serrano; Nathalie Seta; Jolanta Sykut-Cegielska; Christian Thiel; Federic Tort; Mari-Anne Vals; Paula Videira; Peter Witters; Renate Zeevaert; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2019-01       Impact factor: 4.982

3.  Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Authors:  Yiumo Michael Chan; Elizabeth Keramaris-Vrantsis; Hart G Lidov; James H Norton; Natalia Zinchenko; Helen E Gruber; Randy Thresher; Derek J Blake; Jignya Ashar; Jeffrey Rosenfeld; Qi L Lu
Journal:  Hum Mol Genet       Date:  2010-07-30       Impact factor: 6.150

4.  Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

Authors:  Lauren E Bowser; Millie Young; Olivia K Wenger; Zineb Ammous; Karlla W Brigatti; Vincent J Carson; Teresa Moser; James Deline; Kazuhiro Aoki; Thierry Morlet; Ethan M Scott; Erik G Puffenberger; Donna L Robinson; Christine Hendrickson; Jonathan Salvin; Steven Gottlieb; Adam D Heaps; Michael Tiemeyer; Kevin A Strauss
Journal:  Mol Genet Metab       Date:  2019-01-21       Impact factor: 4.797

5.  RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

Authors:  Alec Aeby; Cynthia Prigogine; Catheline Vilain; Geneviève Malfilatre; Jaak Jaeken; Damien Lederer; Patrick Van Bogaert
Journal:  Epileptic Disord       Date:  2016-03       Impact factor: 1.819

6.  Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Authors:  Carmen Barba; Francesca Darra; Raffaella Cusmai; Elena Procopio; Carlo Dionisi Vici; Liesbeth Keldermans; Sandrine Vuillaumier-Barrot; Dirk J Lefeber; Renzo Guerrini
Journal:  Dev Med Child Neurol       Date:  2016-05-13       Impact factor: 5.449

7.  DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Authors:  Rita Barone; Chiara Aiello; Valérie Race; Eva Morava; Francois Foulquier; Moniek Riemersma; Chiara Passarelli; Daniela Concolino; Massimo Carella; Filippo Santorelli; Wendy Vleugels; Eugenio Mercuri; Domenico Garozzo; Luisa Sturiale; Sonia Messina; Jaak Jaeken; Agata Fiumara; Ron A Wevers; Enrico Bertini; Gert Matthijs; Dirk J Lefeber
Journal:  Ann Neurol       Date:  2012-10       Impact factor: 10.422

Review 8.  Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Authors:  Rita Barone; Agata Fiumara; Jaak Jaeken
Journal:  Semin Neurol       Date:  2014-09-05       Impact factor: 3.420

9.  Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Authors:  Anna Bogdańska; Patryk Lipiński; Paulina Szymańska-Rożek; Aleksandra Jezela-Stanek; Dariusz Rokicki; Piotr Socha; Anna Tylki-Szymańska
Journal:  Orphanet J Rare Dis       Date:  2021-01-06       Impact factor: 4.123

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962
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