title: Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts.
abstract: Specific activities of beta-D-hexosaminidase, alpha-D-mannosidase, beta-D-galactosidase and beta-D-glucuronidase were determined in fibroblasts of patients with writer's cramp and torticollis. These diseases show degenerative neurological disorders similar to those observed in lysosomal diseases. Hexosaminidase specific activities, determined using 4-methylumbelliferyl-beta-N-acetylglucopyranoside and 4-methylumbelliferyl-beta-N-acetylglucopyranoside-6-sulphate as substrates, were significantly higher in the fibroblasts of patients than in controls. No significant differences were observed in the specific activities of the other lysosomal enzymes. The increased hexosaminidase specific activities in torticollis and writer's cramp may be additional markers for these diseases.
authors.affiliation: Dipartimento di Biologia Cellulare e Molecolare Università di Perugia, Perugia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Costanzi
authors.forename: T
authors.initials: T
authors.lastname: Beccari
authors.forename: C
authors.initials: C
authors.lastname: Tassi
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
authors.forename: A
authors.initials: A
authors.lastname: Rossi
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002478:Cells, Cultured; D002848:Chromatography, DEAE-Cellulose; D020821:Dystonic Disorders / Q000201:enzymology* / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008875:Middle Aged; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism*
chemical_list: D001619:beta-N-Acetylhexosaminidases