Neurotransmitter abnormalities and response to supplementation in SPG11.

نویسندگان

  • 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
چکیده

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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عنوان ژورنال:
  • Molecular genetics and metabolism

دوره 107 1-2  شماره 

صفحات  -

تاریخ انتشار 2012