title: Motion analysis of a child with Niemann-Pick disease type C treated with miglustat.
abstract: Niemann-Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. This article describes the use of computerized three-dimensional motion analysis to evaluate a 3-year-old child with NPC treated with miglustat for 12 months. Motion analysis provided quantitative data on the patient's gait. However, dementia and motor dysfunction progressed despite the treatment, and the patient lost the ability to walk between 9 and 12 months of the study. Motion analysis should be considered among the tools for measuring functional outcomes in future therapeutical trials of patients with neurodegenerative diseases. It is not possible to draw conclusions about miglustat therapy in NPC from a single patient experience.
authors.affiliation: Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Connecticut, USA. paciorkowskia@neuro.wustl.edu
authors.forename: Alex R
authors.initials: AR
authors.lastname: Paciorkowski
authors.forename: Melany
authors.initials: M
authors.lastname: Westwell
authors.forename: Sylvia
authors.initials: S
authors.lastname: Ounpuu
authors.forename: Katharine
authors.initials: K
authors.lastname: Bell
authors.forename: Jeanne
authors.initials: J
authors.lastname: Kagan
authors.forename: Cindy
authors.initials: C
authors.lastname: Mazzarella
authors.forename: Robert M
authors.initials: RM
authors.lastname: Greenstein
mesh_terms: D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D004576:Electromyography; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics; D009069:Movement Disorders / Q000175:diagnosis* / Q000209:etiology*; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires
chemical_list: D002352:Carrier Proteins; D004791:Enzyme Inhibitors; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein