title: Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat.
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.
authors.affiliation: Royal Free and University College Medical School, Rowland Hill Street, London, UK. d.hughes@medsch.ucl.ac.uk
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
authors.forename: L
authors.initials: L
authors.lastname: Ginsberg
authors.forename: R
authors.initials: R
authors.lastname: Baker
authors.forename: S
authors.initials: S
authors.lastname: Goodwin
authors.forename: A
authors.initials: A
authors.lastname: Milligan
authors.forename: L
authors.initials: L
authors.lastname: Richfield
authors.forename: A B
authors.initials: AB
authors.lastname: Mehta
mesh_terms: D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives*; D000284:Administration, Oral; D000368:Aged; D004791:Enzyme Inhibitors / Q000008:administration & dosage*; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000097:blood / Q000150:complications / Q000188:drug therapy*; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000097:blood / Q000150:complications / Q000188:drug therapy*; D007703:Peptidyl-Dipeptidase A / Q000097:blood
chemical_list: D004791:Enzyme Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat; D006596:Hexosaminidases; C086400:chitotriosidase; D007703:Peptidyl-Dipeptidase A