Neurotransmitter abnormalities and response to supplementation in SPG11
A Vanderver, D Tonduti, S Auerbach, JL Schmidt… - Molecular genetics and …, 2012 - Elsevier
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 …
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 …