Neurotransmitter abnormalities and response to supplementation in SPG11

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.