Các mảng tiểu não trong bệnh Alzheimer gia đình (biến thể Gerstmann-Sträussler-Scheinker?)

Springer Science and Business Media LLC - Tập 65 - Trang 235-246 - 1985
B. Azzarelli1, J. Muller1, B. Ghetti1, M. Dyken2, P. M. Conneally3
1Department of Pathology (Div. Neuropathology), Indiana University School of Medicine, Indianapolis, USA
2Department of Neurology, Indiana University School of Medicine, Indianapolis, USA
3Department of Medical Genetics, Indiana University School of Medicine, Indianapolis, USA

Tóm tắt

Một dòng họ lớn với hai anh em được khám nghiệm tử thi có một hội chứng bao gồm chứng mất khả năng điều phối, chứng sa sút trí tuệ và một số đặc điểm giống như bệnh Parkinson được báo cáo; di truyền có vẻ là trội gen thường. Về mặt bệnh lý thần kinh, có sự hiện diện của các mảng và tân sinh neurofibril trong vỏ não cũng như một số trong nhân trung ương, đặc biệt giống như các mảng thấy trong Kuru; chỉ có một bệnh lý tủy sống tối thiểu (khu vực đường pyramidal). Những vấn đề liên quan đến việc phân loại tình trạng này - bệnh Alzheimer với sự liên quan của tiểu não hay các thực thể khác, chẳng hạn như tình trạng Gerstmann-Sträussler-Scheinker (1936), đặc biệt là bây giờ khi đã có báo cáo về việc truyền bệnh sang động vật trong trường hợp sau - được thảo luận. Một số khía cạnh lý thuyết liên quan thu được từ công trình trên động vật, đặc biệt là trong bệnh scrapie, cũng được xem xét.

Từ khóa

#bệnh Alzheimer #hội chứng Gerstmann-Sträussler-Scheinker #mảng tiểu não #di truyền trội gen thường

Tài liệu tham khảo

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