Two pedigrees with restless legs syndrome in Brazil

Two pedigrees with restless legs syndrome in Brazil

Author Esteves, Andrea Maculano Autor UNIFESP Google Scholar
Pedrazzoli, Mario Autor UNIFESP Google Scholar
Bagnato, Maurício da Cunha Autor UNIFESP Google Scholar
Moreira, F. Autor UNIFESP Google Scholar
Mello, Marco Tulio de Autor UNIFESP Google Scholar
Tufik, Sergio Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Numerous studies have suggested a substantial genetic contribution in the etiology of the primary form of restless legs syndrome (RLS) and periodic leg movements (PLM). We describe the symptoms, the sleep profiles and physiological parameters of two families in which several members present RLS/PLM. The proband of family 1 is a 70-year-old woman and the proband of family 2 is a 57-year-old woman; both have exhibited the symptoms since the age of 20 years. All patients in both families were diagnosed with RLS according to the criteria of the International RLS Study Group. Polysomnographic recordings were performed to quantify and to describe PLM during sleep. Sleep parameters showed decreased sleep efficiency, increased sleep latency in the arousal index and the presence of PLM in all subjects. One of the families showed an exact profile of dominant inheritance with anticipation of age at onset. In the other family, the founders were blood relatives and there was no affected member in the third generation suggesting a recessive mode of inheritance. RLS/PLM is a prevalent sleep disorder affecting about 5 to 15% of the population and one that substantially impairs healthy sleep patterns. Efforts to understand the underlying pathophysiology will contribute to improve the sleep and life quality of these patients.
Keywords restless legs syndrome
periodic leg movements
genetics
sleep
Language English
Date 2008-02-01
Published in Brazilian Journal Of Medical And Biological Research. Sao Paulo: Assoc Bras Divulg Cientifica, v. 41, n. 2, p. 106-109, 2008.
ISSN 0100-879X (Sherpa/Romeo, impact factor)
Publisher Assoc Bras Divulg Cientifica
Extent 106-109
Origin http://dx.doi.org/10.1590/S0100-879X2008000200005
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000253337700005
SciELO ID S0100-879X2008000200005 (statistics in SciELO)
URI http://repositorio.unifesp.br/11600/43131

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