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.
  
  
  METHODS
  Case reports.
  
  
  METHODS
  National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program.
  
  
  METHODS
  Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy.
  
  
  METHODS
  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.
authors: Department of Neurology, Children's National Medical Center, Washington, DC 20010-2970, USA. avanderv@childrensnational.org
authors: Adeline
authors: A
authors: Vanderver
authors: Davide
authors: D
authors: Tonduti
authors: Sarah
authors: S
authors: Auerbach
authors: Johanna L
authors: JL
authors: Schmidt
authors: Sumit
authors: S
authors: Parikh
authors: Gordon C
authors: GC
authors: Gowans
authors: Kelly E
authors: KE
authors: Jackson
authors: Pamela L
authors: PL
authors: Brock
authors: Marc
authors: M
authors: Patterson
authors: Michelle
authors: M
authors: Nehrebecky
authors: Rena
authors: R
authors: Godfrey
authors: Wadih M
authors: WM
authors: Zein
authors: William
authors: W
authors: Gahl
authors: Camilo
authors: C
authors: Toro
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D018377:Neurotransmitter Agents / Q000134:cerebrospinal fluid*; D011506:Proteins / Q000235:genetics; D012160:Retina / Q000473:pathology; D015419:Spastic Paraplegia, Hereditary / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000188:drug therapy*; D055815:Young Adult
chemical_list: D018377:Neurotransmitter Agents; D011506:Proteins; C520412:SPG11 protein, human