对孟加拉国一个家族树中具有非典型临床特征的亨廷顿舞蹈病进行检查。
Examination of Huntington's disease with atypical clinical features in a Bangladeshi family tree.
作者信息
Al-Mamun Md Mahfuz, Sarker Suprovath Kumar, Qadri Syeda Kashfi, Shirin Tahmina, Mohammad Quazi Deen, LaRocque Regina, Karlsson Elinor K, Saha Narayan, Asaduzzaman Muhammad, Qadri Firdausi, Mannoor Md Kaiissar
机构信息
Institute for Developing Science & Health Initiatives (IDESHI) Dhaka Bangladesh.
KK Women's and Children's Hospital Singapore city Singapore.
出版信息
Clin Case Rep. 2016 Nov 11;4(12):1191-1194. doi: 10.1002/ccr3.743. eCollection 2016 Dec.
Atypical manifestation of Huntington's disease (HD) could inform ongoing research into HD genetic modifiers not present in the primarily European populations studied to date. This work demonstrates that expanding HD genetic testing into under-resourced healthcare settings can benefit both local communities and ongoing research into HD etiology and new therapies.
亨廷顿舞蹈症（HD）的非典型表现可为目前对HD基因修饰因子的研究提供信息，这些修饰因子在迄今为止主要研究的欧洲人群中并不存在。这项工作表明，将HD基因检测扩展到资源不足的医疗环境中，既能使当地社区受益，也能推动目前对HD病因和新疗法的研究。
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