J. Winkelmann et al., Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients, SLEEP, 23(5), 2000, pp. 597-602
There is a genetic contribution to the idiopathic restless legs syndrome (i
RLS), An autosomal dominant mode of inheritance is suspected, but as yet no
gene has been identified. To assess the frequency and characteristics of t
he hereditary restless legs syndrome (RLS) in comparison to those of non-he
reditary RLS, we analysed the clinical data of 300 RLS patients. All 300 pa
tients diagnosed as RLS according to the criteria of the International RLS
Study Group were examined using a standard questionnaire covering demograph
ic data, family history, clinical symptoms, subjective sleep disturbances a
nd course of the disease. In all patients a complete neurological examinati
on was performed, and in selected cases electrophysiological examinations a
nd polysomnographic studies. Family history was rated as definitely positiv
e when at least one first-degree relative was examined and classified as RL
S according to the criteria by one of the authors. If it proved impossible
to contact family members to verify reports of a family history, the patien
ts were classified as only having a "possible positive family history." 232
of the 300 patients had iRLS and 68 secondary RLS due to uremia (uRLS), 42
.3% of the patients with iRLS and 11.7% of those with uRLS were classified
as having "definite positive" hereditary RLS, with a further 12.6% of iRLS
patients and 5.8% of uRLS patients as having "possible positive" hereditary
RLS. Patients with definite hereditary RLS were significantly younger at t
he age of onset than those with a negative family history (35.45 vs, 47.17
years, p< 0.05). The clinical characteristics of the disease were similar i
n both groups, except that women with hereditary RLS experienced a worsenin
g of symptoms during pregnancy (19.1% vs. 2.6%, p< 0.05). Our study shows t
hat patients with hereditary RLS may experience an earlier onset of the dis
ease. Hereditary and non-hereditary RLS present with similiar clinical sign
s and symptoms.