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(Referência obtida automaticamente do SciELO, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Two pedigrees with restless legs syndrome in Brazil

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A.M. Esteves ; M. Pedrazzoli ; M. Bagnato ; F. Moreira ; M.T. de Mello ; S. Tufik
Número total de Autores: 6
Tipo de documento: Artigo Científico
Fonte: Brazilian Journal of Medical and Biological Research; v. 41, n. 2, p. 106-109, Fev. 2008.

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. (AU)

Processo FAPESP: 03/06297-3 - Avaliação dos efeitos do exercício físico aeróbio nos movimentos periódicos de pernas
Beneficiário:Andrea Maculano Esteves
Linha de fomento: Bolsas no Brasil - Doutorado