ArticleExperimental neurology2020
The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome.
Article in Experimental neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Putative Animal Models of Restless Legs Syndrome: A Systematic Review and Evaluation of Their Face and Construct Validity.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Pooled it
- Effect of Vibration, Electrical Stimulation and Other Non-Pharmacological Interventions on Restless Leg Syndrome Severity and Sleep Quality: A Systematic Review and Meta-Analysis.Annals of Indian Academy of Neurology · 2025Article
- Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.Neuroscience · 2022Article
- Consensus guidelines on the construct validity of rodent models of restless legs syndrome.Disease models & mechanisms · 2022Article
- Restless legs syndrome: Over 50 years of European contribution.Journal of sleep research · 2022Review
- Restless Legs Syndrome: Known Knowns and Known Unknowns.Brain sciences · 2022Article
- Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.Bioscience reports · 2021Article
- Pharmacologic Treatment of Restless Legs Syndrome.Current neuropharmacology · 2021Review
- Deficiency of Meis1, a transcriptional regulator, in mice and worms: Neurochemical and behavioral characterizations with implications in the restless legs syndrome.Journal of neurochemistry · 2020Article
- Mu opioid receptor knockout mouse: Phenotypes with implications on restless legs syndrome.Journal of neuroscience research · 2020Article
- The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.Neuroscience · 2020Article
- BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome.Brain structure & function · 2020Article
- Restless Legs Syndrome across the Lifespan: Symptoms, Pathophysiology, Management and Daily Life Impact of the Different Patterns of Disease Presentation.International journal of environmental research and public health · 2020Review
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Authors and funding
9 authors at 1 institution in 1 country.
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Abstract
Restless legs syndrome (RLS) is a nocturnal neurological disorder affecting up to 10% of the population. It is characterized by an urge to move and uncomfortable sensations in the legs which can be relieved by movements. Mutations in BTBD9 may confer a higher risk of RLS. We developed Btbd9 knockout mice as an animal model. Functional alterations in the cerebral cortex, especially the sensorimotor cortex, have been found in RLS patients in several imaging studies. However, the role of cerebral cortex in the pathogenesis of RLS remains unclear. To explore this, we used in vivo manganese-enhanced MRI and found that the Btbd9 knockout mice had significantly increased neural activities in the primary somatosensory cortex (S1) and the rostral piriform cortex. Morphometry study revealed a decreased thickness in a part of S1 representing the hindlimb (S1HL) and M1. The electrophysiological recording showed Btbd9 knockout mice had enhanced short-term plasticity at the corticostriatal terminals to D1 medium spiny neurons (MSNs). Furthermore, we specifically knocked out Btbd9 in the cerebral cortex of mice (Btbd9 cKO). The Btbd9 cKO mice showed a rest-phase specific motor restlessness, decreased thermal sensation, and a thinner S1HL and M1. Both Btbd9 knockout and Btbd9 cKO exhibited motor deficits. Our results indicate that systematic BTBD9 deficiency leads to both functional and morphometrical changes of the cerebral cortex, and an alteration in the corticostriatal pathway to D1 MSNs. Loss of BTBD9 only in the cerebral cortex is sufficient to cause similar phenotypes as observed in the Btbd9 complete knockout mice.
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