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Restless legs syndrome (RLS), also known as Willis–Ekbom disease, is a sensory–motor neurological disorder with a circadian component. RLS is characterized by uncomfortable sensations in the extremities, generally at night or during sleep, which often leads to an uncontrollable urge to move them for relief. Recently, genomic studies identified single-nucleotide polymorphisms in  BTBD9 , along with three other genes, as being associated with a higher risk of RLS. Little is known about the function of BTBD9 or its potential role in the pathophysiology of RLS. We therefore examined a line of  Btbd9  mutant mice we recently generated for phenotypes similar to symptoms found in RLS patients. We observed that the  Btbd9  mutant mice had motor restlessness, sensory alterations likely limited to the rest phase, and decreased sleep and increased wake times during the rest phase. Additionally, the  Btbd9  mutant mice had altered serum iron levels and monoamine neurotransmitter systems. Furthermore, the sensory alterations in the  Btbd9  mutant mice were relieved using ropinirole, a dopaminergic agonist widely used for RLS treatment. These results, taken together, suggest that the  Btbd9  mutant mice model several characteristics similar to RLS and would therefore be the first genotypic mouse model of RLS. Furthermore, our data provide further evidence that  BTBD9  is involved in RLS, and future studies of the  Btbd9  mutant mice will help shine light on its role in the pathophysiology of RLS. Finally, our data argue for the utility of  Btbd9  mutant mice to discover and screen novel therapeutics for RLS.

Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice