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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy.
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Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy.

机译：脊髓延髓肌萎缩症的神经系统病程，内分泌功能障碍和三联体重复大小。

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OBJECTIVE: To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease). METHODS: Twenty unrelated SBMA patients with confirmatory genetic testing were reviewed. Patterns of neurologic involvement were assessed (e.g. bulbar, asymmetric, proximal, distal, motor and sensory). Slopes of disease progression were calculated from serial quantified neurologic examinations. Patterns of neurologic involvement and course were correlated to the presence of diabetes, gynecomastia and triplet repeat size. RESULTS: Diabetes or glucose impairment occurred in nine and 11 had gynecomastia. Patterns of neurologic involvement and rates of progression did not correlate with these endocrine diseases or triplet repeat sizes. Correlation was seen between number of CAG repeats and age of onset weakness (r = -0.53, r2 = 29%, p = 0.01). CONCLUSIONS: The specific neurotoxic effect of expanded CAGs appears limited to age of onset weakness in SBMA. Although significant, only 29% of the variability in onset age could be accounted for by polyglutamine size suggesting the importance of other unidentified factors. In this series diabetes or glucose impairment was more common than previously reported and, like gynecomastia, did not correlate with size of triplet repeats, severity or patterns of neurologic involvement. Modifying factors other than diabetes, gynecomastia or triplet repeat size are suggested in disease expression.
机译：目的：研究糖尿病，女性乳房发育和CAG三联体重复序列大小在脊髓延髓性肌萎缩症（SBMA，肯尼迪病）中作为神经系统疾病表达调节因子的作用。方法：对20例无亲缘关系的SBMA患者进行了验证性基因检测。评估了神经系统受累的模式（例如延髓，不对称，近端，远端，运动和感觉）。通过连续的定量神经系统检查计算疾病进展的斜率。神经系统受累和病程的模式与糖尿病，男性乳房发育和三联体重复大小的存在相关。结果：9名和11名患有男性乳腺发育不全的糖尿病或血糖受损。神经系统受累的模式和进展速度与这些内分泌疾病或三联体重复大小无关。观察到CAG重复次数与发病无力年龄之间存在相关性（r = -0.53，r2 = 29％，p = 0.01）。结论：扩大的CAGs的特定神经毒性作用似乎仅限于SBMA发病无力的年龄。尽管很重要，但多谷氨酰胺的大小只能解释发病年龄变异性的29％，这提示了其他未知因素的重要性。在该系列中，糖尿病或葡萄糖损害比以前报道的更为普遍，并且与男性乳房发育症一样，与三联体重复的大小，严重程度或神经系统受累的方式无关。建议在疾病表达中使用除糖尿病，男性乳房发育或三联体重复大小以外的修饰因子。

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