Barbeau A, Roy M
Can J Neurol Sci. 1984 Feb;11(1 Suppl):144-50. doi: 10.1017/s0317167100046308.
In the present paper we explore in some detail the hypothesis that the presence of familial aggregations in 10-15% of Parkinson's disease cases is due in great part to the existence of well-defined familial subsets, rather than to chance occurrences. We describe the clinical and genetic characteristics of the two main subsets: "Essential tremor-related Parkinsonism" and the "Familial akineto-rigid Syndrome" previously identified. The former type of Parkinsonism is associated at random, but with increased frequency, to an autosomal dominant disorder, usually essential tremor but occasionally OPCA. Two possible susceptibility factors were uncovered in this entity: an increased incidence of familial hyperthyroidism (augmentor factor) and a decreased incidence of the generally frequent HLA Haplotypes A1B8 or A2B5 (Protective factors). The other presentation, the "familial akineto-rigid syndrome", appears to be a definite disease entity with an autosomal recessive mode of inheritance (normal parents, increased incidence of identical parkinsonism in sibs, increased consanguinity rate in parents). This newly defined disorder deserves much further genetic and biochemical analysis.
在本论文中，我们较为详细地探讨了这样一种假说：在10%至15%的帕金森病病例中出现家族聚集现象，很大程度上是由于存在明确界定的家族性亚组，而非偶然发生。我们描述了两个主要亚组的临床和遗传特征：“特发性震颤相关性帕金森综合征”和先前已确定的“家族性运动不能-强直综合征”。前一种类型的帕金森综合征随机但频率增加地与一种常染色体显性疾病相关，通常是特发性震颤，但偶尔也与橄榄脑桥小脑萎缩（OPCA）相关。在这个实体中发现了两个可能的易感性因素：家族性甲状腺功能亢进症发病率增加（增强因素）以及通常常见的HLA单倍型A1B8或A2B5发病率降低（保护因素）。另一种表现形式，即“家族性运动不能-强直综合征”，似乎是一种明确的疾病实体，具有常染色体隐性遗传模式（父母正常，同胞中患相同帕金森病的发病率增加，父母近亲结婚率增加）。这种新定义的疾病值得进行更深入的遗传和生化分析。
