Lenz H, Pürgyi P
Wien Klin Wochenschr. 1976 Dec 10;88(23):762-4.
The clinical features and genetic inheritance of cerebellar ataxia, presumably of the Holmer type, are described in a family with four affected members over three generations. Two of these cases were severly affected, whilst the remaining two cases were probably of a relatively mild form. The pitfalls in diagnosis are discussed and the dangers of incorrect diagnosis pointed out.
本文描述了一个三代中有四名患者的家族中可能为霍尔默型的小脑共济失调的临床特征和遗传方式。其中两名患者病情严重,而另外两名患者病情可能相对较轻。文中讨论了诊断中的陷阱,并指出了错误诊断的风险。