title: Fucosidosis with dystonia.
abstract: Fucosidosis, a progressive neurodegenerative disease, evident in early childhood, is associated with progressive loss of mental and motor function and increasing spasticity and hyperreflexia. We report a Canadian male, with clinical features similar to previously reported fucosidosis patients, however, since age 5 he has exhibited progressive dystonic posturing, initially unilateral, but recently involving both lower limbs. Extensive study of his cultured lymphoblasts demonstrated that alpha-fucosidase activity and immunoreactive alpha-fucosidase protein were absent. He is homozygous for the Q422X mutation, a C to T transition within exon 8 of the alpha-fucosidase gene which results in loss of an EcoR1 restriction enzyme cut site. Even among the 4 other reported fucosidosis families having one or more individuals homozygous for this same (Q422X) mutation there was no previous report of dystonia.
authors.affiliation: Department of Biochemical Genetics, CPRI, London, ON, Canada.
authors.forename: B A
authors.initials: BA
authors.lastname: Gordon
authors.forename: K E
authors.initials: KE
authors.lastname: Gordon
authors.forename: H C
authors.initials: HC
authors.lastname: Seo
authors.forename: M
authors.initials: M
authors.lastname: Yang
authors.forename: R A
authors.initials: RA
authors.lastname: DiCioccio
authors.forename: J S
authors.initials: JS
authors.lastname: O'Brien
mesh_terms: D002675:Child, Preschool; D017931:DNA Primers; D004421:Dystonia / Q000150:complications*; D004797:Enzyme-Linked Immunosorbent Assay; D005091:Exons; D005645:Fucosidosis / Q000150:complications*; D006020:Glycopeptides / Q000652:urine; D006801:Humans; D008297:Male; D017354:Point Mutation; D005644:alpha-L-Fucosidase / Q000378:metabolism
chemical_list: D017931:DNA Primers; D006020:Glycopeptides; D005644:alpha-L-Fucosidase