Neurotransmitter abnormalities and response to supplementation in SPG11

Adeline Vanderver, Davide Tonduti, Sarah Auerbach, Johanna L. Schmidt, Sumit Parikh, Gordon C. Gowans, Kelly E. Jackson, Pamela L. Brock, Marc Patterson, Michelle Nehrebecky, Rena Godfrey, Wadih M. Zein, William Gahl, Camilo Toro

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)229-233
Number of pages5
JournalMolecular genetics and metabolism
Issue number1-2
StatePublished - Sep 2012


  • Dopa responsive dystonia
  • Neurotransmitter disorder
  • SPG11
  • Spastic paraparesis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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