title: Congenital disorders of glycosylation with emphasis on cerebellar involvement.
abstract: Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. The authors present an update on these disorders affecting the central nervous system with a focus on cerebellar involvement. The rate of identification of novel CDG shows an exponential increase. Some 76 CDG are actually known, not taking into account the defects in glycan-modifying proteins. Neurologic involvement is present in the large majority of CDG. Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with sialic acid deficiency), and serum apolipoprotein C-III isoelectrofocusing (for core 1 mucin-type O-glycosylation disorders). Whole exome/genome sequencing is increasingly used in the diagnostic workup of patients with CDG-X. Treatment is greatly lagging behind because only one CDG is efficiently treatable (MPI-CDG). Cerebellar involvement is an important feature of PMM2-CDG, the congenital muscular dystrophies due to dystroglycanopathy, and SRD5A3-CDG. It has also been reported in some patients with ALG1-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, ALG8-CDG, PIGA-CDG, DPM1-CDG, DPM2-CDG, B4GALT1-CDG, SLC35A2-CDG, COG1-CDG, COG5-CDG, COG7-CDG, and COG8-CDG.
authors.affiliation: Department of Pediatrics, Pediatric Neurology, University of Catania, Catania, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.affiliation: Department of Pediatrics, Pediatric Neurology, University of Catania, Catania, Italy.
authors.forename: Agata
authors.initials: A
authors.lastname: Fiumara
authors.affiliation: Department of Pediatrics, Center for Metabolic Disease, KULeuven, Leuven, Belgium.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D002525:Cerebellar Cortex / Q000503:physiopathology*; D018981:Congenital Disorders of Glycosylation / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006031:Glycosylation; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics
chemical_list: D026901:Membrane Transport Proteins; C080679:creatine transporter