Azzarelli B, Muller J, Ghetti B, Dyken M, Conneally P M
Acta Neuropathol. 1985;65(3-4):235-46. doi: 10.1007/BF00687003.
A large kindred, with two brothers coming to autopsy, of a syndrome consisting of ataxia, dementia, and some Parkinsonian features is reported; inheritance appears to be autosomal dominant. Neuropathologically, there were plaques and neurofibrillary tangles in the cerebral cortex as well as some in the basal ganglia, particularly reminiscent of the plaques seen in Kuru; there was only minimal spinal cord disease (pyramidal tract field). The problems of classifying this condition--Alzheimer's disease with cerebellar involvement or other entities, such as the Gerstmann-Sträussler-Scheinker condition (1936), especially now that transmission to animals in the latter has been reported--are discussed. Some relevant theoretical considerations derived from animal work, particularly in scrapie, are also reviewed.
报道了一个大家系，有两名兄弟接受尸检，患有共济失调、痴呆和一些帕金森氏症特征组成的综合征；遗传方式似乎为常染色体显性遗传。神经病理学检查发现，大脑皮层以及基底神经节有斑块和神经原纤维缠结，特别让人联想到库鲁病所见的斑块；脊髓疾病（锥体束区域）很轻微。讨论了对这种病症进行分类的问题——伴有小脑受累的阿尔茨海默病或其他病症，如格斯特曼-施特劳斯勒-申克综合征（1936年），尤其是现在已有后者向动物传播的报道。还回顾了从动物实验，特别是羊瘙痒病研究中得出的一些相关理论思考。
