Two pedigrees with restless legs syndrome in Brazil
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....
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Associação Brasileira de Divulgação Científica
2008-02-01
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doaj-072807e5ce16419da800a4c3852214942020-11-24T20:55:06ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research0100-879X1414-431X2008-02-01412106109Two pedigrees with restless legs syndrome in BrazilA.M. EstevesM. PedrazzoliM. BagnatoF. MoreiraM.T. de MelloS. TufikNumerous 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200005Restless legs syndromePeriodic leg movementsGeneticsSleep |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
A.M. Esteves M. Pedrazzoli M. Bagnato F. Moreira M.T. de Mello S. Tufik |
spellingShingle |
A.M. Esteves M. Pedrazzoli M. Bagnato F. Moreira M.T. de Mello S. Tufik Two pedigrees with restless legs syndrome in Brazil Brazilian Journal of Medical and Biological Research Restless legs syndrome Periodic leg movements Genetics Sleep |
author_facet |
A.M. Esteves M. Pedrazzoli M. Bagnato F. Moreira M.T. de Mello S. Tufik |
author_sort |
A.M. Esteves |
title |
Two pedigrees with restless legs syndrome in Brazil |
title_short |
Two pedigrees with restless legs syndrome in Brazil |
title_full |
Two pedigrees with restless legs syndrome in Brazil |
title_fullStr |
Two pedigrees with restless legs syndrome in Brazil |
title_full_unstemmed |
Two pedigrees with restless legs syndrome in Brazil |
title_sort |
two pedigrees with restless legs syndrome in brazil |
publisher |
Associação Brasileira de Divulgação Científica |
series |
Brazilian Journal of Medical and Biological Research |
issn |
0100-879X 1414-431X |
publishDate |
2008-02-01 |
description |
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. |
topic |
Restless legs syndrome Periodic leg movements Genetics Sleep |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200005 |
work_keys_str_mv |
AT amesteves twopedigreeswithrestlesslegssyndromeinbrazil AT mpedrazzoli twopedigreeswithrestlesslegssyndromeinbrazil AT mbagnato twopedigreeswithrestlesslegssyndromeinbrazil AT fmoreira twopedigreeswithrestlesslegssyndromeinbrazil AT mtdemello twopedigreeswithrestlesslegssyndromeinbrazil AT stufik twopedigreeswithrestlesslegssyndromeinbrazil |
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1716792566100262912 |