OBJECTIVES: To fully ascertain the familial aggregation of restless legs syndrome (RLS) and to characterize the clinical features of familial RLS (fRLS) cases. DESIGN: A case series survey with a high response rate. SETTING: Academic research center. PARTICIPANTS: Consecutive RLS probands (n = 249) were followed up in a specialized sleep center for 15 years. A total of 671 cases of fRLS met the current standard diagnostic criteria, including 192 probands characterized using multidimensional clinical assessments and 479 affected family members assessed by their responses to a structured questionnaire telephone diagnostic interview. MAIN OUTCOME MEASURES: Sibling and offspring relative risk ratio and clinical and genetic features of patients with fRLS and families. RESULTS: Our data showed that RLS aggregates in families with a familial rate of 77%, a sibling relative risk of 3.6 (95% confidence interval, 2.8-4.4), and an offspring relative risk of 1.8 (1.0-2.7). Familial RLS is a chronic disorder with a mean (SD) disease duration of 24 (16) years and a wide range of age of onset (mean [SD], 28 [15] years), with most family members having early-onset disease but mild to moderate RLS symptoms. Our clinical data also indicated that fRLS is more prominent among women who also had increased incidence of anemia/iron deficiency, arthritis, and number of pregnancies. Pregnancy-related RLS seems to be a characteristic feature of fRLS, and afflicted women tend to have a much younger age of onset. CONCLUSIONS: Restless legs syndrome significantly aggregated in families with variable phenotypic expressivity, and the siblings of severely affected individuals have an increased risk of developing the disease.
OBJECTIVES: To fully ascertain the familial aggregation of restless legs syndrome (RLS) and to characterize the clinical features of familial RLS (fRLS) cases. DESIGN: A case series survey with a high response rate. SETTING: Academic research center. PARTICIPANTS: Consecutive RLS probands (n = 249) were followed up in a specialized sleep center for 15 years. A total of 671 cases of fRLS met the current standard diagnostic criteria, including 192 probands characterized using multidimensional clinical assessments and 479 affected family members assessed by their responses to a structured questionnaire telephone diagnostic interview. MAIN OUTCOME MEASURES: Sibling and offspring relative risk ratio and clinical and genetic features of patients with fRLS and families. RESULTS: Our data showed that RLS aggregates in families with a familial rate of 77%, a sibling relative risk of 3.6 (95% confidence interval, 2.8-4.4), and an offspring relative risk of 1.8 (1.0-2.7). Familial RLS is a chronic disorder with a mean (SD) disease duration of 24 (16) years and a wide range of age of onset (mean [SD], 28 [15] years), with most family members having early-onset disease but mild to moderate RLS symptoms. Our clinical data also indicated that fRLS is more prominent among women who also had increased incidence of anemia/iron deficiency, arthritis, and number of pregnancies. Pregnancy-related RLS seems to be a characteristic feature of fRLS, and afflicted women tend to have a much younger age of onset. CONCLUSIONS:Restless legs syndrome significantly aggregated in families with variable phenotypic expressivity, and the siblings of severely affected individuals have an increased risk of developing the disease.
Authors: Paul Yeh; William G Ondo; Daniel L Picchietti; J Steven Poceta; Richard P Allen; Charles R Davies; Lily Wang; Yaping Shi; Kanika Bagai; Arthur S Walters Journal: J Clin Sleep Med Date: 2016-12-15 Impact factor: 4.062
Authors: Angela Roco; Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Carmen Martínez; Martín Zurdo; Laura Turpín-Fenoll; Jorge Millán; Teresa Adeva-Bartolomé; Esther Cubo; Francisco Navacerrada; Ana Rojo-Sebastián; Lluisa Rubio; Marisol Calleja; José Francisco Plaza-Nieto; Belén Pilo-de-la-Fuente; Margarita Arroyo-Solera; Elena García-Martín; José A G Agúndez Journal: J Neural Transm (Vienna) Date: 2012-09-22 Impact factor: 3.575
Authors: Michael B Butterworth; Liang Zhang; Elisa M Heidrich; Michael M Myerburg; Patrick H Thibodeau Journal: J Biol Chem Date: 2012-08-02 Impact factor: 5.157