Erös E, Czeizel E
Humángenetikai és Teratológiai Osztály, Országos Közegészségügyi Intézet-WHO Orökletes Artalmak Társadalmi Megelözése Együttmüködési Központ, Budapest.
Orv Hetil. 1994 Apr 10;135(15):801-4.
Three affected members of a family with olivopontocerebellar atrophy IV (Schut-Haymaker type) of autosomal dominant inheritance are presented. The five types of olivopontocerebellar atrophy are differentiated on the basis of clinical symptoms and the mode of inheritance. Its clinical symptoms are varied but the cerebellar ataxia of different extent is present in every case which may be followed by pyramidal and extrapyramidal symptoms. Clear differentiation from the other types is based on the destruction of the nuclei of cranial cerebral nerves (IX, X, XII).
本文介绍了一个患有常染色体显性遗传的橄榄体脑桥小脑萎缩IV型（舒特-海梅克型）的家族中的三名患病成员。橄榄体脑桥小脑萎缩的五种类型是根据临床症状和遗传模式来区分的。其临床症状多样，但每例均存在不同程度的小脑共济失调，随后可能出现锥体束和锥体外系症状。与其他类型的明确区分基于脑神经核（IX、X、XII）的破坏。
