Kurlan R, Behr J, Medved L, Shoulson I, Pauls D, Kidd J R, Kidd K K
Neurology. 1986 Jun;36(6):772-6. doi: 10.1212/wnl.36.6.772.
We studied a large Mennonite kindred affected by chronic motor tics (CMTs) and vocal tics in a probable autosomal dominant pattern. We administered a standardized questionnaire to 69 family members and reviewed our videotapes of 47. Using DSM III criteria and independent ratings, we diagnosed 10 subjects as having definite Tourette's syndrome (TS), 3 with definite CMTs, 15 with probable TS, and 1 with probable CMT. The clinical features of this family are presented. This is the largest known kindred with TS. Permanent lymphoblastoid cell lines have been established from 67 family members for genetic linkage analysis.
我们研究了一个受慢性运动性抽动(CMT)和发声性抽动影响的大型门诺派家族,其遗传模式可能为常染色体显性遗传。我们向69名家庭成员发放了标准化问卷,并查看了47人的录像带。根据《精神疾病诊断与统计手册》第三版(DSM III)标准和独立评级,我们诊断出10名受试者患有明确的妥瑞氏症(TS),3名患有明确的CMT,15名可能患有TS,1名可能患有CMT。本文呈现了该家族的临床特征。这是已知最大的TS家族。已从67名家庭成员中建立了永久性淋巴母细胞系用于基因连锁分析。