Pareyson D, Castellotti B, Botti S, Defanti C A, Gellera C, Taroni F, Sghirlanzoni A
Divisione di Neurologia, Istituto Nazionale Neurologico C. Besta, IRCCS, Milano.
Ital J Neurol Sci. 1995 Oct;16(7):467-71. doi: 10.1007/BF02229324.
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.
肯尼迪病，即脊髓延髓肌萎缩症（SBMA），是一种罕见的X连锁运动神经元疾病，具有雄激素不敏感的多种体征。它与雄激素受体（AR）基因内三核苷酸CAG重复序列的扩增有关。我们在此报告我们对两个患有肯尼迪病的意大利家族的临床和分子研究结果。在四名患病男性和七名携带者女性中证实了CAG重复序列长度增加。
