Elejalde B R, de Elejalde M M, Lopez F
Clin Genet. 1979 Jul;16(1):1-18. doi: 10.1111/j.1399-0004.1979.tb00842.x.
We had the opportunity to study a family, five of whose members were affected by the Hallervorden-Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P greater than 0.23 +/- 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system. The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 +/- 7.8 years.
我们有机会研究了一个家庭，其五名成员患有哈勒沃登 - 施帕茨病（三名男性和一对双胞胎女孩）。分析了该病症的特征，并与其他作者认为受该病症影响的病例进行了比较。分析了家族内和家族间的变异情况，结果表明后者对该病症的总体变异贡献最大。从已报道的病例和我们研究的家庭中可以明确确定，这是一种常染色体隐性病症（P大于0.23±0.08）。有人提出，这种病症可能起源于欧洲，是由与神经黑色素和多巴胺能系统相关的先天性代谢缺陷引起的。该病症会逐渐影响肌肉张力和自主运动，使自主协调运动、咀嚼和吞咽几乎变得不可能，在其发展的后期，精神衰退、消瘦、严重的进食困难和视力障碍是常见的临床表现。发病年龄和死亡年龄均呈单峰曲线分布。诊断后的平均存活时间为11.18±7.8年。
