Fucosidosis with dystonia

Neuropediatrics. 1995 Dec;26(6):325-7. doi: 10.1055/s-2007-979784.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA Primers
  • Dystonia / complications*
  • Enzyme-Linked Immunosorbent Assay
  • Exons
  • Fucosidosis / complications*
  • Glycopeptides / urine
  • Humans
  • Male
  • Point Mutation
  • alpha-L-Fucosidase / metabolism

Substances

  • DNA Primers
  • Glycopeptides
  • alpha-L-Fucosidase