Warner C L, Servidei S, Lange D J, Miller E, Lovelace R E, Rowland L P
Department of Neurology, State University of New York, Buffalo.
Arch Neurol. 1990 Oct;47(10):1117-20. doi: 10.1001/archneur.1990.00530100087018.
Kennedy's syndrome, X-linked adult-onset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities.
肯尼迪综合征，即X连锁成年起病型延髓脊髓性肌萎缩症，已在30多个家族中被描述。其特征性的肌无力分布形成了一种可识别的综合征，常伴有睾丸萎缩和男性乳房发育的表现。在一些家族中还发现了IV型或II型高脂蛋白血症。我们研究了另一个患有肯尼迪综合征的家族，该家族伴有低β脂蛋白血症。血清模式的多样性表明脂蛋白异常与内分泌病或脊髓性肌萎缩症均无因果关系。然而，基因连锁研究表明肯尼迪综合征基因与雄激素受体编码基因位置相近，这可以解释运动神经元疾病和内分泌异常的并存现象。
