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Updated: Jul 18, 2026

Rating L-DOPA-Induced Dyskinesias in the Unilaterally 6-OHDA-Lesioned Rat Model of Parkinson's Disease
Published on: October 4, 2021
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
Jennifer Friedman1, Keith Hyland, Nenad Blau
1Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. jrfriedman@chsd.org
Abstract:
Sepiapterin reductase deficiency (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive movement disorder. We describe a patient with SRD and distinctive phenotypic feature of marked hypersomnolence. Our patient showed improvement with therapies directed at both serotonergic and dopaminergic deficiencies. This case illustrates symptoms that characterize the SRD phenotype and demonstrates the importance of systematic treatment trials addressing the various biochemical abnormalities present.
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