Critchley E M, Nicholson J T, Betts J J, Weatherall D J
Postgrad Med J. 1970 Dec;46(542):698-701. doi: 10.1136/pgmj.46.542.698.
A chronic degenerative neurological disorder is described which is characterized by tics, grimacing, involuntary movements, a severe disturbance of swallowing and a concurrent malformation of the erythrocytes. This condition is clearly different from familial hypo-betalipoproteinaemia and abetalipoproteinaemia, the two previously described neurological disorders associated with abnormal red cells.
描述了一种慢性退行性神经疾病,其特征为抽搐、鬼脸、不自主运动、严重吞咽障碍以及同时存在的红细胞畸形。这种病症明显不同于家族性低β脂蛋白血症和无β脂蛋白血症,这是之前描述的两种与异常红细胞相关的神经疾病。