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Neurotransmitter abnormalities and response to supplementation in SPG11
Adeline Vanderver1, Davide Tonduti, Sarah Auerbach
1Department of Neurology, Children's National Medical Center, Washington, DC 20010-2970, USA. avanderv@childrensnational.org
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.
