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Neuropediatrics 1995; 26(6): 325-327
DOI: 10.1055/s-2007-979784
Short communications

© Hippokrates Verlag GmbH Stuttgart

Fucosidosis with Dystonia

B. A. Gordon1 , K. E. Gordon2 , H. C. Seo3 , M. Yang4 , R. A. DiCioccio4 , J. S. O'Brien3
  • 1Department of Biochemical Genetics, CPRI and Departments of Pediatrics and Biochemistry, The University of Western Ontario, London, ON, Canada
  • 2Department of Pediatrics, Dalhousie University and Izaak Walton Killam Hospital, Halifax, NS, Canada
  • 3Center for Molecular Genetics, The University of California at San Diego, La Jolla, CA, USA
  • 4Department of Gynecologic Oncology, Roswell Park Cancer Institute, Buffalo, NY, USA
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Publication History

Publication Date:
19 April 2007 (online)

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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 α-fucosidase activity and immunoreactive α-fucosidase protein were absent. He is homozygous for the Q422X mutation, a C to T transition within exon 8 of the α-fucosidase gene which results in loss of an EcoRl 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.

Key words

Dystonia - Fucosidosis - a-Fucosidase mutation