期刊
NEUROLOGY
卷 79, 期 7, 页码 668-674出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e3182648b65
关键词
-
资金
- National Institutes for Neurologic Disorders and Stroke (NINDS) [5R01NS055903-03, 2]
- CHDI Foundation
- National Institute of Dental and Craniofacial Research (NIDCR) [R01 DE014399-05]
- Huntington Disease Society of America
- University of Iowa Huntington Disease Center of Excellence
Objective: The effect of mHTT on human development was examined by evaluating measures of growth in children at risk for Huntington disease (HD). Methods: Children at risk for HD with no manifest symptoms (no juvenile HD included) were enrolled and tested for gene expansion for research purposes only. Measurements of growth (height, weight, body mass index [BMI], and head circumference) in children tested as gene-expanded (n = 20, 7-18 years of age, CAG repeats >= 39) were compared to those of a large database of healthy children (n = 152, 7-18 years of age). Results: Gene-expanded children had significantly lower measures of head circumference, weight, and BMI. Head circumference was abnormally low even after correcting for height, suggesting a specific deficit in brain growth, rather than a global growth abnormality. Conclusions: These results indicate that, compared to a control population, children who were estimated to be decades from HD diagnosis have significant differences in growth. Further, they suggest that mHTT may play a role in atypical somatic, and in particular, brain development. Neurology (R) 2012;79:668-674
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据