Foncin J F, Cardot J L, Martinet Y, Arnott G
Rev Neurol (Paris). 1982;138(2):123-35.
The patient has been examined clinically and his brain examined. Four related patients are known by hospital records, and two others by history. The mode of transmission is compatible with a mendelian autosomic dominant mechanism through three generations, but the line appears to be broken at the further ascending generation with both parents dying too old to be affected. The disease begins in the early thirties, with tremor and frequent falls; intellectual impairment is soon obvious. Later on, the patients are demented, unruly; a marked dysarthria and severe intention and opposition tremor in the trunk and the extremities are present. Midline reflexes are brisk, other reflexes are normal, a Babinski response is not obtained. Laboratory and E.E.G. data are non contributive. At a terminal stage, the patient is bedridden, cachectic, with extensor hypertonia of the lower extremities and flexor hypertonia of the upper extremities. Total course is about seven years. Neuropathological findings in the propositus were almost entirely restricted to the cerebellar cortex, the molecular layer of which is moderately atrophic and gliotic, and contains numerous plaque-like formations without neuritic component, but differing from kuru plaques by the absence of amyloid characteristics. The condition may be nevertheless ascribed to Gerstmann-Sträussler-Scheinker disease, understood as a provisional clinicopathology group, pending further transmission experiments.
该患者已接受临床检查及脑部检查。医院记录显示有4名相关患者，另有2名患者根据病史确诊。疾病传播模式符合孟德尔常染色体显性遗传机制，历经三代，但在向上追溯时谱系似乎中断，因为双亲去世时年龄过大未受影响。该病始于三十岁出头，表现为震颤和频繁跌倒；智力障碍很快就会显现。随后，患者会出现痴呆、行为不羁；存在明显的构音障碍以及躯干和四肢严重的意向性震颤和姿势性震颤。中线反射活跃，其他反射正常，未引出巴宾斯基征。实验室检查和脑电图数据无诊断价值。在终末期，患者卧床不起、恶病质，下肢伸肌张力亢进，上肢屈肌张力亢进。整个病程约七年。先证者的神经病理学发现几乎完全局限于小脑皮质，其分子层中度萎缩并伴有胶质增生，含有许多无神经炎性成分的斑块样结构，但与库鲁病斑块不同，不具有淀粉样蛋白特征。不过，鉴于有待进一步的传播实验，这种情况仍可归为格斯特曼-施特劳斯勒-申克病，这是一个临时的临床病理组。
