This study investigated whether any of the six initially discovered genomic loci associating with RLS (BTBD9, MEIS1, PTPRD, MAP2K5/SKOR1, TOX3, and an intergenic region on chromosome 2), were more strongly associated with complaints of painful versus non-painful RLS.
PLM-Index asymmetry (PLM-I difference of >5/h between both sides) was observed less frequently in PD (34% of patients) compared to RLS (77%, P < 0.05) and SDB (59%, P < 0.05; χ2 test).
Together these results support previous reports showing a relationship between the Btbd9/dopamine system and RLS, and elucidate in part the pathophysiology of RLS.
MEIS1 belongs to the homeobox containing transcriptional regulatory network (HOX).Work in <i>C. elegans</i> showed a link between the <i>MEIS1</i> ortholog and iron homeostasis, which is in line with the fact that central nervous system (CNS) iron insufficiency is thought to be a cause of RLS.
Finally, possible genetic links between PD and RLS (the presence of allele 2 of the complex microsatellite repeat Rep1 within the α-synuclein gene promoter) and between Tourette syndrome and RLS (several variants in the <i>BTBD9</i> gene) have been reported in 2 case-control association studies, although these data, based on preliminary data with small sample sizes, need to be replicated in further studies.
The purpose of this review is to discuss migraine and RLS diseases and explain the comorbidity of migraine and RLS and possible mechanisms leading to this comorbidity in the light of recent studies.
The model also integrates the recent findings on RLS genetics indicating that RLS has aspects of a genetically moderated neurodevelopmental disorder involving mainly the cortico-striatal-thalamic-cortical circuits.
We observed a significant reduction in mRNA levels of heme oxygenase 1 and mitochondrial iron genes like mitoferrin 1 and 2 in monocytes isolated from restless legs syndrome patients, indicating mitochondrial iron deficiency.
Polymerase chain reaction (PCR) and sequencing were used to detect 12 single nucleotide polymorphisms (SNPs) in seven candidate genes for RLS (HMOX1, HMOX2, VDR, IL17A, IL1B, NOS1 and ADH1B).
In RLS patients 72.8% of leg movements confirmed by polysomnography could be detected by 3-D-video and a significant moderate correlation was found between PLM measured by polysomnography and by the 3-D-camera (RLS: r = 0.654; p = 0.004).
Finally, possible genetic links between PD and RLS (the presence of allele 2 of the complex microsatellite repeat Rep1 within the α-synuclein gene promoter) and between Tourette syndrome and RLS (several variants in the <i>BTBD9</i> gene) have been reported in 2 case-control association studies, although these data, based on preliminary data with small sample sizes, need to be replicated in further studies.
Compared with adolescents without RLS, adolescents with RLS < 3 times per week and those with RLS ≥ 3 times per week demonstrated significantly higher rates of insomnia symptoms (13.8%, 20.0%, and 36.4%, respectively; χ² = 117.84, P < .0001), internalizing (9.1%, 18.5%, and 34.1%; χ² = 238.84, P < .001) and externalizing (9.8%, 17.4%, and 34.1%; χ² = 193.87, P < .001) problems, and hopelessness (13.0%, 16.9%, and 27.8%; χ² = 54.10, P < .001).
Our study failed to replicate the association between 9 candidate genetic loci (HMOX1, HMOX2, VDR, IL17A, IL1B, NOS1, ADH1B, GABRR3 and GABRA4) and RLS in the Chinese population.
The purpose of this study was to quantify two proteins, previously identified by proteomics and potentially linked with CVD risk, namely kininogen-1 (KNG1) and alpha-1-antitrypsin (A1AT), in primary RLS patients at high severity grade (HS-RLS) in comparison to healthy control subjects.
Our study failed to replicate the association between 9 candidate genetic loci (HMOX1, HMOX2, VDR, IL17A, IL1B, NOS1, ADH1B, GABRR3 and GABRA4) and RLS in the Chinese population.