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Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome
Author(s) -
Trenkwalder Claudia,
Seidel Victor Collado,
Gasser Thomas,
Oertel Wolfgang H.
Publication year - 1996
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870110407
Subject(s) - restless legs syndrome , penetrance , expressivity , anticipation (artificial intelligence) , medicine , pediatrics , age of onset , polysomnography , psychology , psychiatry , neurology , disease , apnea , genetics , artificial intelligence , biology , computer science , gene , phenotype
Idiopathic restless legs syndrome (RLS) frequently follows an autosomal dominant inheritance with a variable clinical expressivity of symptoms. We describe the largest German kindred of familial RLS with 20 affected and investigated members in four generations with a variety of clinical symptoms. Patients were examined clinically, and polysomnography was performed in selected cases. The diagnosis was set according to the diagnostic criteria of the International RLS study Group. All patients showed sensory symptoms of their legs and a worsening of symptoms with increasing age. Older patients, who needed treatment, responded well to opioids. Segregation ratios were close to 0.5, confirming a virtually complete penetrance. The mean age of onset fell from 51.5 years in the second generation to 19.8 years in the fourth generation (ANOVA, p=0.025). The identification of presymptomatic carriers in the fourth generation in the following years, however, may prejudice this result. This large family showed the variety of clinical RLS symptoms with decreasing age of onset in generations II‐IV, suggesting at least the possibility of anitcipation.