Elevated β-N-acetylhexosaminidase activity in focal dystonia fibroblasts

E. Costanzi, T. Beccari, C. Tassi, An Orlacchio, A. Rossi

Research output: Contribution to journalArticlepeer-review


Specific activities of β-D-hexosaminidase, α-D-mannosidase, β-D-galactosidase and β-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-β-N-acetylglucopyranoside and 4-methylumbelliferyl-β-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. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)31-35
Number of pages5
JournalClinica Chimica Acta
Issue number1-2
Publication statusPublished - Oct 1999


  • Dystonia
  • Lysosomal enzymes
  • Torticollis
  • Writer's cramp

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry


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