Robinson I C, O'Malley B P, Young I D
Clinical Genetics Unit, Leicester Royal Infirmary, UK.
J Neurol Neurosurg Psychiatry. 1988 Dec;51(12):1576-7. doi: 10.1136/jnnp.51.12.1576.
Two sisters are reported who both developed partial cranial diabetes insipidus in their 4th decade, followed by progressive cerebellar ataxia. This appears to be the first report of cerebellar ataxia and diabetes insipidus occurring together as a genetic entity.
据报道,有两姐妹在40多岁时均患上了部分性颅部尿崩症,随后出现进行性小脑共济失调。这似乎是小脑共济失调和尿崩症作为一种遗传实体同时出现的首例报道。