Paradiso G, Micheli F, Taratuto A L, Parera I C
Department of Neurology, Hospital Nacional de Pediatría, Buenos Aires, Argentina.
J Neurol Neurosurg Psychiatry. 1996 Aug;61(2):196-9. doi: 10.1136/jnnp.61.2.196.
A 61 year old woman and her 58 year old brother presented with the clinical picture of late onset progressive bulbar and spinal muscular atrophy with family history of involvement in successive generations. The sister also had optic neuropathy and the brother developed diabetes mellitus and sex hormone abnormalities. Neurophysiological and histopathological studies showed a pattern of motor and sensory neuronopathy. There was no abnormal expansion of CAG repeats in the androgen receptor gene. This family seems to have a previously unrecognised entity with the bulbospinal neuronopathy phenotype.
一名61岁女性及其58岁的兄弟出现迟发性进行性延髓和脊髓性肌萎缩的临床表现，家族中有连续几代人受累的病史。该女性还患有视神经病变，其兄弟患有糖尿病和性激素异常。神经生理学和组织病理学研究显示出运动和感觉神经元病的模式。雄激素受体基因中的CAG重复序列没有异常扩增。这个家族似乎有一种以前未被认识的具有延髓脊髓神经元病表型的疾病实体。
