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

ABSTRACT: 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.

SUBMITTER: DeAndrade MP

PROVIDER: S-EPMC3428151 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

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

DeAndrade Mark P MP Johnson Russell L RL Unger Erica L EL Zhang Li L van Groen Thomas T Gamble Karen L KL Li Yuqing Y

Human molecular genetics 20120607 18

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 ...[more]

PMID: 22678064

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Project description:Incongruence between our motor intention and the sensory feedback of the action (sensorimotor conflict) induces abnormalities in sensory perception in various chronic pain populations, and to a lesser extent in pain-free individuals. The aim of this study was to simultaneously investigate sensory and motor disturbances evoked by sensorimotor conflicts, as well as to assess how they are influenced by the presence of acute pain. It was hypothesized that both sensory and motor disturbances would be increased in presence of pain, which would suggest that pain makes body representations less robust. Thirty healthy participants realized cyclic asymmetric movements of flexion-extension with both upper limbs in a robotized system combined to a 2D virtual environment. The virtual environment provided a visual feedback (VF) about movements that was either congruent or incongruent, while the robotized system precisely measured motor performance (characterized by bilateral amplitude asymmetry and medio-lateral drift). Changes in sensory perception were assessed with a questionnaire after each trial. The effect of pain (induced with capsaicin) was compared to three control conditions (no somatosensory stimulation, tactile distraction and proprioceptive masking). Results showed that while both sensory and motor disturbances were induced by sensorimotor conflicts, only sensory disturbances were enhanced during pain condition comparatively to the three control conditions. This increase did not statistically differ across VF conditions (congruent or incongruent). Interestingly however, the types of sensations evoked by the conflict in the presence of pain (changes in intensity of pain or discomfort, changes in temperature or impression of a missing limb) were different than those evoked by the conflict alone (loss of control, peculiarity and the perception of having an extra limb). Finally, results showed no relationship between the amount of motor and sensory disturbances evoked in a given individual. Contrary to what was hypothesized, acute pain does not appear to make people more sensitive to the conflict itself, but rather impacts on the type and amount of sensory disturbances that they experienced in response to that conflict. Moreover, the results suggest that some sensorimotor integration processes remain intact in presence of acute pain, allowing us to maintain adaptive motor behavior.

Dataset Information

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

Publications

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

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