Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees

Alice Lazzarini, Arthur S. Walters, Kathleen Hickey, Giorgio Coccagna, Elio Lugaresi, Bruce L. Ehrenberg, Daniel L Picchietti, Mitchell F. Brin, E. Scot Stenroos, Tracy Verrico, William G. Johnson

Research output: Contribution to journalArticlepeer-review


Restless legs syndrome (RLS) can occur with an autosomal-dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One-factor analysis of variance of ages of onset between generations was carried out, and segregation ratios were calculated for each generation. These kindreds showed an autosomal-dominant mode of inheritance and a male:female ratio of 1:1.4 (p = 0.15). One of the five analyzed pedigrees shows some evidence of reduced penetrance. In two of the five analyzed pedigrees, there is statistical support for anticipation (p < 0.05). These variations in penetrance and anticipation suggest possible genetic heterogeneity.

Original languageEnglish (US)
Pages (from-to)111-116
Number of pages6
JournalMovement Disorders
Issue number1
StatePublished - May 25 1999


  • Anticipation
  • Autosomal dominant
  • Familial restless legs syndrome
  • Parental transmission
  • Penetrance
  • Periodic limb movements in sleep

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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