Golbe L I, Lazzarini A M, Schwarz K O, Mark M H, Dickson D W, Duvoisin R C
Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick 08903-0019.
Neurology. 1993 Nov;43(11):2222-7. doi: 10.1212/wnl.43.11.2222.
The few previously reported patients with familial parkinsonism and Lewy-body pathology in the substantia nigra displayed a variety of clinical and pathologic syndromes. We now describe a family with very slowly progressive Parkinson's disease (PD) that has, in most cases, responded poorly to levodopa and includes subjective visual difficult. Four personally confirmed cases--with onset at ages 35, 25, 16, and 16-have occurred in three generations, and four suspicious cases have occurred in three other generations. There has been a trend toward progressively younger age of onset. One autopsied case showed a distribution of cell loss and Lewy bodies typical of PD. The hereditary pattern is most compatible with autosomal dominance. This kindred's illness shows that a presumably single Mendelian dominant gene can cause the clinical and pathologic features of PD, and further extends the clinical spectrum of pathologically typical Lewy-body PD.
先前报道的少数患有家族性帕金森病且黑质存在路易小体病理改变的患者表现出多种临床和病理综合征。我们现在描述一个患有进展非常缓慢的帕金森病（PD）的家族，在大多数情况下，该家族对左旋多巴反应不佳，且存在主观视觉困难。在三代人中出现了4例经个人确认的病例，发病年龄分别为35岁、25岁、16岁和16岁，另外三代中还出现了4例疑似病例。发病年龄有逐渐年轻化的趋势。1例尸检病例显示出典型的PD细胞丢失和路易小体分布。遗传模式最符合常染色体显性遗传。这个家族的疾病表明，一个可能单一的孟德尔显性基因可导致PD的临床和病理特征，并进一步扩展了病理典型路易小体PD的临床谱。
