Journal
MOLECULAR GENETICS AND METABOLISM
Volume 107, Issue 1-2, Pages 229-233Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2012.05.020
Keywords
Spastic paraparesis; Dopa responsive dystonia; Neurotransmitter disorder; SPG11
Funding
- National Human Genome Research Institute, NIH
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Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with L-dopa/carbidopa and sapropterin. Design: Case reports. Setting: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program. Patients: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy. Interventions: L-Dopa/carbidopa and sapropterin. Results: 3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to L-dopa as well as sapropterin. Conclusions: In the SPG11 patient with extrapyramidal symptoms, a trial of L-dopa/carbidopa and sapropterin anti/or evaluation of cerebrospinal fluid neurotransmitters should be considered. (C) 2012 Elsevier Inc. All rights reserved.
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