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.

Costanzi, E., Beccari, T., Tassi, C., Orlacchio, A., Rossi, A. (1999). Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts. CLINICA CHIMICA ACTA, 288(1-2), 31-35 [10.1016/S0009-8981(99)00133-3].

Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts

ORLACCHIO, ANTONIO;
1999-10-01

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.
ott-1999
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA
English
Con Impact Factor ISI
Dystonic Disorders; beta-N-Acetylhexosaminidases; Chromatography, DEAE-Cellulose; Cells, Cultured; Humans; Adult; Case-Control Studies; Aged; Middle Aged; Male; Female; Fibroblasts
Costanzi, E., Beccari, T., Tassi, C., Orlacchio, A., Rossi, A. (1999). Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts. CLINICA CHIMICA ACTA, 288(1-2), 31-35 [10.1016/S0009-8981(99)00133-3].
Costanzi, E; Beccari, T; Tassi, C; Orlacchio, A; Rossi, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/90017
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