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Brain Advance Access originally published online on April 8, 2003
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Brain, Vol. 126, No. 6, 1485-1492, June 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg137

Autosomal dominant restless legs syndrome maps on chromosome 14q

Maria Teresa Bonati1, Luigi Ferini-Strambi2, Paolo Aridon1, Alessandro Oldani2, Marco Zucconi2 and Giorgio Casari1

1 Human Molecular Genetics Unit, Department of Neuroscience, Dibit-San Raffaele Scientific Institute, Milan and 2 Sleep Disorder Center, University Vita-Salute San Raffaele, Milan, Italy

Correspondence to: Giorgio Casari, PhD, Human Molecular Genetics Unit, Dibit-San Raffaele Scientific Institute, Via Olgettina 58, 20132, Milan, Italy E-mail: g.casari{at}hsr.it

Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible desire to move the extremities associated with paraesthesia/dysaesthesia. These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. In this paper, we show significant evidence of linkage to a new locus for RLS on chromosome 14q13-21 region in a 30-member, three-generation Italian family affected by RLS and periodic leg movements in sleep (PLMS). This is the second RLS locus identified so far and the first consistent with an autosomal dominant inheritance pattern. The new RLS critical region spans 9.1 cM, between markers D14S70 and D14S1068. The maximum two-point log of odds ratio score value, of 3.23 at {theta} = 0.0, was obtained for marker D14S288. The accurate clinical evaluation of RLS-affected, as well as unaffected, family members allowed for the configuring of RLS as a phenotypic spectrum ranging from PLMS to RLS. Motor component, both while awake and during sleep, was an important aspect of the phenotype in the family analysed. The complementary clinical and genetic studies on multiplex families are likely to be of the utmost importance in unfolding the complete expressivity of RLS phenotype spectrum.


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