| 摘要: |
| 目的:报道经基因诊断证实的一个Kennedy 病家系,并对其临床、病理和分子遗传学特征进行讨论,建立关于Kennedy 病较为完整的临床资料。方法:展开完整的家系调查,共检查3代41位个体。对先证者进行肌酶谱、肌电图、内分泌功能检查、神经肌肉活检。采集外周静脉血常规提取基因组DNA,PCR扩增雄激素受体(androgen receptor,AR)基因第一个外显子的CAG重复数。结果:先证者（Ⅲ-11个体）CAG重复数为54；1例患者（Ⅳ-2个体）CAG重复数为55；1例症状前个体（Ⅳ-8 个体）CAG重复数为54。此外,还发现3例女性携带者（Ⅱ-6 个体、Ⅲ-3 个体、Ⅲ-15 个体）。先证者肌酶增高,肌电图示神经源性损害,血睾酮增高,神经活检显示周围神经脱髓鞘改变,肌肉活检表现为神经源性肌萎缩。结论:Kennedy病临床表现无特异性,基因诊断是金标准；本病病程进展缓慢,与肌萎缩侧索硬化或延髓麻痹相比病程明显延长,预后相对良性。 |
| 关键词: X-连锁隐性遗传性脊髓延髓型肌萎缩 雄激素受体基因 基因检测 系谱 病理学 |
| DOI：10.3724/SP.J.1008.2009.01254 |
| 投稿时间：2009-01-16修订日期：2009-10-12 |
| 基金项目: |
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| A clinical,pathological and genetic study of a Chinese family with Kennedy disease |
| ZHAO Mei1,ZHANG She-qing2,WANG Wen-zhang3,XU Xiao-yun1,DING Su-ju2* |
| (1.Department of Neurology,East Hospital,Tongji University,Shanghai 200120,China;2.Department of Neurology,Changhai Hospital,Second Military Medical University,Shanghai 200433;3.Institute of Genetics,Fudan University,Shanghai 200433) |
| Abstract: |
| Objective:To report a genetically proven Kennedy disease pedigree in China and to discuss its clinical presentations,pathological features and molecular mechanism,so as to provide more information on Kennedy disease.Methods: We conducted a complete survey of the family,including 3 generations and 41 individuals. The proband was given a thorough clinical examination including CK level,EMG,testosterone level,nerve biopsy,and muscle biopsy.Genomic DNA was extracted from the peripheral blood; the repeats of CAG in the exon 1 of androgen receptor was amplified by PCR and sequenced directly.Results: The sequencing result showed that the proband（Ⅲ-11) had a CAG repeat of 54）; one patient (Ⅳ-2) had a CAG repeat of 55; one had a CAG repeat of 54; one presymptomatic individual had a CAG repeat of 54（Ⅳ-8）. There were 3 female carriers（Ⅱ-6,Ⅲ-3,and Ⅲ-15）.The CPK and testosterone levels were increased in the proband.EMG revealed neurogenic injury.Nerve biopsy revealed demylination change in the peripheral nerve and muscle biopsy revealed muscle atrophy originated from nerve.Conclusion: Kennedy has no characteristic clinical symptoms,and gene diagnosis is the gold standard.The progression of SBMA is usually much slower compared with those of bulbar atrophy and atrophic lateral sclerosis(ALS). |
| Key words: X-linked spinal and bulbar muscular atrophy androgen receptor gene gene determination pedigree pathology |
