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.
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