• Xun-Hua Li, Jia-Jun Zhuang, Qiu-You Xie, Ai-Ping Li, Xiu-Ling Liang, Yan-Qing Feng, Ying-Ying Fang, Jin-Ru Li, and Yin-Xing Liang.
• Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
• Zhonghua Yi Xue Za Zhi. 2007 Jun 19; 87 (23): 1611-5.

ObjectiveTo study the clinical and molecular genetic characteristics of spinal bulbar muscular atrophy (SBMA).MethodsThe clinical data, including case history, physical examination, biochemical analyses of blood, EMG, and muscle biopsy, of 5 Chinese patients with SBMA, all males, aged 29 - 58, with the onset age of 36 (17 - 49), were collected the information of in 5 cases. Four patients underwent PCR to examine the number of copies of CAG repeat region in androgen receptor (AR) gene.ResultsThe clinical characteristics of the 5 patients included atrophy of lingualis, dysarthria, weakness and waste of the limbs, especially in the hands, and elevated creatine kinase (CK), fasting glucose, testosterone, and progesterone in the blood. EMG showed denervation motor potentials in all cases. The muscle biopsy in one case showed neurogenic atrophy. The number of (CAG) n repeat in AR gene was 50 - 62 in the, remarkably from that of 13 normal controls (19 - 20) without overlapping.ConclusionSBMA affects the middle age males, shows a slowly progressing muscular atrophy in spinal and bulbar muscles. The different number of (CAG) n repeat of AR gene between the SBMA patients and the normal controls may be an important identification to differentiate SBMA from other motor neuron diseases.

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