Neuhäuser G, Eichner J M, Opitz J M
Am J Med Genet. 1983 May;15(1):127-33. doi: 10.1002/ajmg.1320150117.
Recurrent encephalopathy affecting cerebellar and extrapyramidal structures was observed in five members of two families. The syndrome is characterized by sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech. Choreic and athetoid movements were present, and there was loss of deep tendon reflexes with presence of pathological reflexes. Onset of the disease was early in childhood. Attacks lasted for days to weeks; residual symptoms comprising speech impairment and incoordination were seen in some patients. Both sexes were affected. The pedigrees suggest autosomal dominant inheritance. Pathogenesis remains unexplained by the laboratory studies done; metabolic or immunological processes predisposed by genetic factors are suggested. Similar reports from the literature are discussed; no identical family could be found.
在两个家族的五名成员中观察到复发性脑病，累及小脑和锥体外系结构。该综合征的特征为躯干共济失调突然发作，偶尔伴有嗜睡和言语障碍。存在舞蹈样和手足徐动样运动，深腱反射消失并伴有病理反射。疾病发病于儿童早期。发作持续数天至数周；部分患者有言语障碍和不协调等残留症状。男女均受影响。家系图谱提示为常染色体显性遗传。所做的实验室研究尚无法解释其发病机制；推测可能是由遗传因素引发的代谢或免疫过程。文中讨论了文献中的类似报告；未发现相同的家族。
