@article{c2b123d29295495580ff05a814b01f3f,
title = "Neurotransmitter abnormalities and response to supplementation in SPG11",
abstract = "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 and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.",
keywords = "Dopa responsive dystonia, Neurotransmitter disorder, SPG11, Spastic paraparesis",
author = "Adeline Vanderver and Davide Tonduti and Sarah Auerbach and Schmidt, {Johanna L.} and Sumit Parikh and Gowans, {Gordon C.} and Jackson, {Kelly E.} and Brock, {Pamela L.} and Marc Patterson and Michelle Nehrebecky and Rena Godfrey and Zein, {Wadih M.} and William Gahl and Camilo Toro",
note = "Funding Information: Patients 1, 2 and 3 were enrolled via the Myelin Disorders Bioregistry Program and all patients were evaluated as part of the Undiagnosed Disease Program at the National Institutes of Health (NIH). Thanks are given to the administrative staff of the Undiagnosed Disease Program (UDP) for their logistical efforts. Thanks are also given to referring physicians and patients described in this report, in particular Dr. Steven Vernino for his assistance on outpatient care in one case. Interpretation of neurotransmitter abnormalities was assisted by Dr. Philip Pearl at Children's National Medical Center. The contributions of A.V. were supported by the intramural program at the National Human Genome Research Institute, NIH . Assistance in description of mutation status was provided by Khalida Liaquat, MS, CGC, Genetic Counselor at Athena Diagnostics.",
year = "2012",
month = sep,
doi = "10.1016/j.ymgme.2012.05.020",
language = "English (US)",
volume = "107",
pages = "229--233",
journal = "Molecular genetics and metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",
}