Terao Y, Hitoshi S, Shimizu J, Sakuta M, Kitamoto T
Department of Neurology, Japanese Red Cross Medical Center.
Rinsho Shinkeigaku. 1992 Aug;32(8):880-3.
A 53-year-old male was admitted to our hospital for progressive dementia and gait disturbance which had started at the age of 48. Examination indicated dementia, dysarthria, dysphagia, bilateral pyramidal signs, apraxia of the limbs, and extrapyramidal signs such as fine finger tremors, and rigidity of limbs. There were no cerebellar signs or myoclonus. His mother and elder brother showed similar symptoms and died at the ages of 53 and 50, respectively. EEG was normal. CT and MRI showed mild brain atrophy, but no cerebellar atrophy. T2 weighted image indicated low intensity areas covering bilateral caudate nuclei and putamina. A heterozygous amino acid change from methionine to valine was noted at codon 129 of the prion protein of the patient as well as in one of his son. The most likely diagnosis was Gerstmann-Sträussler-Scheinker (GSS) disease without cerebellar atrophy. GSS may include a broad spectrum of brain pathology. Whether the codon change is associated with pathology without cerebellar atrophy is a problem that awaits further investigation.
一名53岁男性因48岁起病的进行性痴呆和步态障碍入住我院。检查发现有痴呆、构音障碍、吞咽困难、双侧锥体束征、肢体失用症以及诸如手指细微震颤和肢体僵硬等锥体外系体征。无小脑体征或肌阵挛。他的母亲和哥哥有类似症状，分别于53岁和50岁去世。脑电图正常。CT和MRI显示轻度脑萎缩，但无小脑萎缩。T2加权像显示双侧尾状核和壳核有低强度区域。在该患者及其一个儿子的朊蛋白第129密码子处发现了从甲硫氨酸到缬氨酸的杂合氨基酸改变。最可能的诊断是无小脑萎缩的格斯特曼-施特劳斯勒-申克（GSS）病。GSS可能包括广泛的脑部病变。密码子改变是否与无小脑萎缩的病变相关是一个有待进一步研究的问题。
