Neurotransmitter abnormalities and response to supplementation in SPG11.
Mol Genet Metab
; 107(1-2): 229-33, 2012 Sep.
Article
en En
| MEDLINE
| ID: mdl-22749184
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.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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
/
Neurotransmisores
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Año:
2012
Tipo del documento:
Article