Genetics in Restless Legs Syndrome
2 Dokuz Eylül Üniversitesi Tıp Fakültesi İç Hastalıkları Anabilim Dalı, İzmir
Restless legs syndrome (RLS); is a sensorimotor disorder characterized by an urge or need to move the limbs, usually associated with abnormal sensations in the legs. These symptoms are worse at rest, are relieved by movement, and mainly occur at night. Epidemiological studies indicate that the symptoms of RLS are present in about 5-15% of the general population. The pathophysiology of RLS involve iron metabolism and dopaminergic system dysfunction. Dopaminergic and iron replacement therapy relieve the most symptoms of RLS. Clinical surveys of RLS have shown positive family history and suggested an autosomal dominant inheritance with variable expressivity, and some families show possible anticipation. Molecular genetic studies did not show any significant finding but genome-wide studies showed that susceptibility locus on chromosome 9, 12 and 14 were confirmed in RLS patients. In conclusion, RLS is a heterogenous genetical disorder and new investigations are needed in the identification of the RLS genes.
Keywords : Restless legs syndrome (RLS), genetic