Hart J, Gordon B
Division of Cognitive Neurology, Johns Hopkins University and School of Medicine, Baltimore.
J Neurol Neurosurg Psychiatry. 1990 Nov;53(11):932-4. doi: 10.1136/jnnp.53.11.932.
A case of progressive dementia and extrapyramidal signs beginning at age 29, with a ten year course until death, is presented. Necropsy examination showed an assortment of plaque types (including striatal plaques), neurofibrillary tangles, granulovacuolar degeneration, and depigmentation of the substantia nigra and locus ceruleus. This case had pathological features found in both Gerstmann-Straussler-Scheinker disease and in Alzheimer's disease. While somewhat similar to several other cases with features of both diseases, it differs in the presence of dystonia and striatal plaques. Although such cases may be difficult to categorize at present, they must be considered in the differential diagnosis of early onset dementia.
本文报告一例患者，29岁起病，出现进行性痴呆和锥体外系症状，病程长达十年直至死亡。尸检显示有多种斑块类型（包括纹状体斑块）、神经原纤维缠结、颗粒空泡变性，以及黑质和蓝斑色素脱失。该病例具有格斯特曼-施特劳斯勒-谢inker病和阿尔茨海默病的病理特征。虽然与其他几例兼具这两种疾病特征的病例有些相似，但该病例存在肌张力障碍和纹状体斑块，有所不同。尽管目前这类病例可能难以分类，但在早发性痴呆的鉴别诊断中必须予以考虑。
