The clinical neurophysiology of the restless legs syndrome and periodic limb movements. Part I: diagnosis, assessment, and characterization

Abstract

Objective: The restless legs syndrome is a common sensorimotor disorder impacting on sleep which has been known for centuries, but only recently become recognized as a significant clinical and pathophysiological problem. The definition of RLS has evolved until certain key clinical features have been defined as diagnostic, while others are strongly associated: the urge to move is seen as primary. Epidemiology suggests ethnic variation with highest frequency in populations of European origin; family and genetic studies support a genetic basis to many idiopathic cases while links to secondary disorders usually involving low iron stores are also known. Abnormalities of brain iron transport and consequent dysfunction of the dopamine system are suspected sources of the disorder.

Methods: The literature was searched for all references relating clinical neurophysiologic investigations to the diagnosis, assessment, and characterization of RLS.

Results: RLS is defined clinically and diagnosed by medical history while its frequent concomitant, periodic limb movements (PLM), must be diagnosed by polysomnography or movement recording. Severity of RLS is generally assessed by subjective measures, but sleep recording and measurement of PLM frequency and association with sleep disruption are also used to measure severity. A provocative test, the suggested immobilization test, can also be used with both subjective and movement recording. RLS and PLM in RLS are both associated with the circadian cycle and are maximal early in the sleep period. PLM appear to be associated both with unstable EEG phases involving the cyclic alternating pattern and cyclical autonomic changes whose initiation may precede the muscle activity.

Conclusions: While RLS remains a subjective disorder, neurophysiologic measures have been important, especially for assessment. Ambulatory methodologies may offer the most accurate and economical means of assessing motor activity as a key marker of RLS and of accurately measuring PLM from night to night. As the pathophysiology of RLS is better understood, more focused techniques may be developed to measure its presence and severity in individual patients.