Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: A case report of 24 months’ oral substrate reduction therapy with miglustat

• Published in: Parkinsonism & related disorders 2007-08, Vol.13 (6), p.365-368
• Main Authors: Hughes, D.A, Ginsberg, L, Baker, R, Goodwin, S, Milligan, A, Richfield, L, Mehta, A.B
• Format: Article
• Language: English
• Subjects: 1-Deoxynojirimycin - administration & dosage; 1-Deoxynojirimycin - analogs & derivatives; Administration, Oral; Aged; Enzyme Inhibitors - administration & dosage; Follow-Up Studies; Gaucher Disease - blood; Gaucher Disease - complications; Gaucher Disease - drug therapy; Gaucher's disease; Hexosaminidases - blood; Humans; Male; Miglustat; Neurology; Parkinson Disease - blood; Parkinson Disease - complications; Parkinson Disease - drug therapy; Parkinson's disease; Peptidyl-Dipeptidase A - blood; Substrate reduction therapy
• ISSN: 1353-8020; 1873-5126
• DOI: 10.1016/j.parkreldis.2006.07.010

Abstract We report here the results of 24 months’ treatment with oral miglustat of a patient with mild-to-moderate Gaucher's disease (GD) and Parkinsonism. The patient's progressive Parkinsonian tremor, in addition to restricted vascular access, necessitated switching treatment for GD from intravenously infused enzyme replacement therapy (ERT) that had been administered for the previous 7 years. With control of haematological parameters and markers of GD activity improved or maintained and no notable adverse effects, miglustat treatment proved an effective and well-tolerated therapeutic alternative to ERT. Oral miglustat should be considered for the treatment of patients with type I GD and concurrent movement disorders who are unsuitable for ERT.