One hundred thirty-three cases of restless legs syndrome (RLS), diagnosed with criteria recently formulated by an international study group, were studied by questionnaire and with all-night polysomnographic recordings. Results show that RLS starts at a mean age of 27.2 years and before age 20 in 38.3% of patients. Symptoms often appear in one leg only and also involve upper limbs in about half of all cases. Most patients (94%) report sleep-onset insomnia or numerous nocturnal awakenings due to RLS symptoms. A strong relationship was found between these complaints and polysomnographic findings; increasing sleep latency and number of awakenings and decreasing sleep efficiency were associated with worsening symptoms. Periodic leg movements in sleep (index > 5 movements/h sleep) were found in 80.2% of patients. This study shows that this percentage is increased when 2 recording nights are considered (most severe score). Eighty patients of 127 (63%) reported the presence of RLS in at least one of their first-degree relatives. In these families, 221 of 568 first-degree relatives (39%) were reported by the patients to be affected with RLS.

controlled-trials.com Identifier: ISRCTN47431149.

Patients with restless leg syndrome (RLS) complain of motor restlessness, usually occurring while they rest in the evening. Two immobilization tests have been described to assess leg restlessness in these patients. In the first test, the patient sits in bed with his or her legs outstretched while electromyograms are recorded from right and left anterior tibialis muscles for an hour (Suggested Immobilization Test [SIT]); in the second test, the legs are immobilized in a stretcher (Forced Immobilization Test [FIT]). In the current study, the SIT and the FIT were compared in patients with RLS and normal control subjects matched for age and sex. More leg movements were seen in patients than in controls during immobilization tests, especially the SIT. These movements were periodic, occurring at a frequency of approximately one every 12 seconds. The SIT (index > 40) was found to discriminate between RLS and control subjects better than the FIT (index > 25). Patients were also recorded during two consecutive nights to measure periodic leg movements in sleep (PLMS). A SIT index greater than 40 and a PLMS index greater than 11 (highest PLMS index of 2 consecutive nights) were found to discriminate patients with RLS from control subjects with similar power. With each of these two measures, the clinical diagnosis was correctly predicted in 81% of patients and 81% of the control subjects. The SIT has several advantages over the measure of the PLMS index; it does not require an all-night polygraphic recording and can be administered several times a day to measure circadian fluctuation of motor restlessness.

Tourette disorder (TD) is a neuropsychiatric disorder with a complex mode of inheritance and is characterized by multiple waxing and waning motor and phonic tics. This article reports the results of the largest genetic linkage study yet undertaken for TD. The sample analyzed includes 238 nuclear families yielding 304 "independent" sibling pairs and 18 separate multigenerational families, for a total of 2,040 individuals. A whole-genome screen with the use of 390 microsatellite markers was completed. Analyses were completed using two diagnostic classifications: (1) only individuals with TD were included as affected and (2) individuals with either TD or chronic-tic (CT) disorder were included as affected. Strong evidence of linkage was observed for a region on chromosome 2p (-log P = 4.42, P = 3.8 x 10(-5) in the analyses that included individuals with TD or CT disorder as affected. Results in several other regions also provide moderate evidence (-log P >2.0) of additional susceptibility loci for TD.