Lazzarini A, Walters A S, Hickey K, Coccagna G, Lugaresi E, Ehrenberg B L, Picchietti D L, Brin M F, Stenroos E S, Verrico T, Johnson W G
Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick 08903, USA.
Mov Disord. 1999 Jan;14(1):111-6. doi: 10.1002/1531-8257(199901)14:1<111::aid-mds1018>3.0.co;2-9.
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.
不宁腿综合征（RLS）可呈常染色体显性遗传模式发生。为确定RLS家系是否存在可能阐明发病机制分子机制的显著特征，对5个家系中81名受累成员的发病年龄、性别比和遗传模式进行了分析。对各代之间的发病年龄进行了单因素方差分析，并计算了每一代的分离比。这些家系呈现常染色体显性遗传模式，男女比例为1:1.4（p = 0.15）。5个分析家系中有1个显示出一些外显率降低的证据。在5个分析家系中的2个中，有统计学证据支持遗传早现（p<0.05）。这些外显率和遗传早现的变化提示可能存在遗传异质性。
