Search
Close
Search
Advanced Search
Search Menu
AI Discovery Assistant

Abstract

Background:

A genetic deficiency in sepiapterin reductase leads to a combined deficit of serotonin and dopamine. The motor phenotype is characterized by a dopa-responsive fluctuating generalized dystonia-parkinsonism. The non-motor symptoms are poorly recognized. In particular, the effects of brain serotonin deficiency on sleep have not been thoroughly studied.

Objective:

We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency.

Patient:

The patient was a 28-year-old man with fluctuating generalized dystonia-parkinsonism caused by sepiapterin reductase deficiency.

Methods:

A sleep interview, wrist actigraphy, sleep log over 14 days, 48-h continuous sleep and core temperature monitoring, and measurement of CSF neurotransmitters and circadian serum melatonin and Cortisol levels before and after treatment with 5-hydroxytryptophan (the precursor of serotonin) and levodopa were performed.

Results:

Before treatment, the patient had mild hypersomnia with long sleep time (704 min), ultradian sleep-wake rhythm (sleep occurred every 11.8 ± 5.3 h), organic hyperphagia, attention/executive dysfunction, and no depression. The serotonin metabolism in the CSF was reduced, and the serum melatonin profile was flat, while Cortisol and core temperature profiles were normal. Supplementation with 5-hydroxytryptophan, but not with levodopa, normalized serotonin metabolism in the CSF, reduced sleep time to 540 min, normalized the eating disorder and the melatonin profile, restored a circadian sleep-wake rhythm (sleep occurred every 24±1.7 h, P < 0.0001), and improved cognition.

Conclusion:

In this unique genetic paradigm, the melatonin deficiency (caused by a lack of its substrate, serotonin) may cause the ultradian sleep-wake rhythm.

Sepiapterin reductase deficiency, hypersomnia, melatonin, ultradian sleep-wake rhythm, tetrahydrobiopterin, serotonin
Topic:
Issue Section:
Sleep And Circadian Effects From Loss Of Serotonin
You do not currently have access to this article.
Download all slides

Comments

0 Comments
Comments (0)
Submit a comment
You have entered an invalid code
Thank you for submitting a comment on this article. Your comment will be reviewed and published at the journal's discretion. Please check for further notifications by email.