Neurotransmitter abnormalities and response to supplementation in SPG11.
Molecular genetics and metabolism(2012)
摘要
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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关键词
Spastic paraparesis,Dopa responsive dystonia,Neurotransmitter disorder,SPG11
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