Neurology and Neuro Surgery

Biography

Biography: Mauro Manconi

Abstract

Restless leg syndrome (RLS) is an often under diagnosed sleep-related sensorimotor disorder which affects up to 10% of adult general population, characterized by uncomfortable sensations in the legs, which begins or worsens during rest, improves or disappears with movement, and occurs or worsens in the evening or at night. RLS is often associated to insomnia and reduced quality of life. In more than 80% of patients, the polysomnography unmasks periodic leg movements (PLM) during sleep, which are repetitive leg jerks characterized by a triple flexion movement of the lower limbs, usually associated to electroencephalographic arousals and to an increasing of the heart rate, which can contribute to sleep disruption. The idiopathic one is the most common form of RLS and can be inherited as an autosomal dominant trait. Recently, two large genome-wide scan studies recognized three genomic regions encoding the intronic variants of the genes MEIS 1, BTBD9 and MAP2K5. Even though the pathogenesis of the RLS is still unknown, there are several pieces of evidence that address to a possible dysfunction of the descending dopaminergic neurons from the hypothalamic A11 region to the intermediolateral and dorsal spinal gray matter. RLS worsens with antidopaminergic treatment, can be induced by hyposideremia (iron is the coenzyme of the tyrosine-hydroxylase, the limiting enzyme in the dopamine synthesis), may be associated with Parkinson diseases, and shows a circadian trend of the symptoms and PLM distribution which is inversely related to the levels of blood and cerebro-spinal fluid dopamine. As well as in reward and cognitive processes, dopamine is also strongly implicated in regulation of locomotor activity and movement in general. Mainly, the dopaminergic hypothesis in RLS is supported by the fact that both RLS and PLM respond dramatically to dopamine-agonists medication, even at very low dosages and since the first night of administration.