Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency

Neurology. 2020 Jul 21;95(3):e332-e334. doi: 10.1212/WNL.0000000000009901. Epub 2020 Jun 26.

Authors

Tina Mainka¹, Jessica Hoffmann¹, Andrea A Kühn¹, Saskia Biskup¹, Christos Ganos²

Affiliations

¹ From the Department of Neurology (T.M., A.A.K., C.G.), Charité University Medicine Berlin; Berlin Institute of Health (T.M.); and Center for Genomics and Transcriptomics (J.H., S.B.), Tübingen, Germany.
² From the Department of Neurology (T.M., A.A.K., C.G.), Charité University Medicine Berlin; Berlin Institute of Health (T.M.); and Center for Genomics and Transcriptomics (J.H., S.B.), Tübingen, Germany. christos.ganos@charite.de.

PMID: 32591469
DOI: 10.1212/WNL.0000000000009901

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Video-Audio Media

MeSH terms

Adult
Circadian Rhythm / physiology*
Dystonia / complications*
Dystonia / diagnosis*
Dystonia / physiopathology
Humans
Hyperkinesis / diagnosis*
Hyperkinesis / etiology*
Hyperkinesis / physiopathology
Male
Metabolism, Inborn Errors / complications*
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / physiopathology
Psychomotor Disorders / complications*
Psychomotor Disorders / diagnosis*
Psychomotor Disorders / physiopathology

Supplementary concepts

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency