## Abstract We report on a family with comorbidity of Huntington's disease (HD) and idiopathic restless legs syndrome (RLS). All family members investigated and affected by RLS are also affected by HD, but not vice versa. The association of HD and RLS is discussed with respect to dopaminergic dysfu
Childhood-onset restless legs syndrome: Clinical and genetic features of 22 families
β Scribed by Hiltrud Muhle; Anja Neumann; Katja Lohmann-Hedrich; Thora Lohnau; Yang Lu; Susen Winkler; Stephan Waltz; Anke Fischenbeck; Patricia L. Kramer; Christine Klein; Ulrich Stephani
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 101 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
Abstract
Restless legs syndrome (RLS) is a sensoryβmotor disorder that is underdiagnosed in children and often misclassified as attention deficit hyperactivity disorder. Five different gene loci (RLS1β5) and three susceptibility loci have been identified in adultβonset RLS. We included 23 children with RLS (age at onset β€14 years) from 22 families. In 14 families, we performed linkage and genotype analyses. Of the 23 RLS patients, only seven (30.4%) were admitted for a suspected diagnosis of RLS. Five patients had a retrospectively established onset at an age as early as 1 year. The most frequent complaint in patients were sleep problems (21 of 23; 91%) resulting in fatigue in 14 children (60.9%). Twelve of the 19 tested cases (63.2%) exhibited an index of periodic limb movements in sleep greater than 5. Dopaminergic therapy was successful in 12 of 14 treated patients (85.7%). Family history for RLS was positive in 20 of 23 children (87.0%) and compatible with an autosomal dominant inheritance pattern. Linkage analysis excluded all five loci in two families. A trend for an association at two of the three reported susceptibility regions was observed. RLS symptoms can occur in early childhood. The positive family history suggests a genetic cause in most families with at least one additional RLS gene locus. Β© 2008 Movement Disorder Society
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## Abstract 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