Evaluating the current state of the art of Huntington disease research: a scientometric analysis

Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers’ understandings of the current knowledge, research trends, and research gaps regarding this disorder. We performed literature searches of articles that were published up to September 2016 in the “ISI Web of Science™” (http://apps.webofknowledge.com/). The keyword used was “Huntington disease”. Of the initial 14,036 articles that were obtained, 7732 were eligible for inclusion in the study according to their relevance. Data were classified according to language, country of publication, year, and area of concentration. The country leader regarding the number of studies published on HD is the United States, accounting for nearly 30% of all publications, followed by England and Germany, who have published 10 and 7% of all publications, respectively. Regarding the language in which the articles were written, 98% of publications were in English. The first publication to be found on HD was published in 1974. A surge of publications on HD can be seen from 1996 onward. In relation to the various knowledge areas that emerged, most publications were in the fields of neuroscience and neurology, likely because HD is a neurodegenerative disorder. Publications written in areas such as psychiatry, genetics, and molecular biology also predominated.

亨廷顿舞蹈症（Huntington disease, HD）是一种由4号染色体显性突变引发的无法治愈的神经退行性疾病。本研究旨在对当前致力于深入解析亨廷顿舞蹈症的各类科研活动开展科学计量分析。为此，我们开展了一项定量研究，以考察当前前沿研究方法，助力研究者明晰该疾病的现有认知、研究趋势与研究空白。本研究检索了截至2016年9月收录于“ISI Web of Science™”（http://apps.webofknowledge.com/）的相关文献，检索关键词为“Huntington disease”。初始检索共获取14036篇文献，经相关性筛选后，7732篇符合纳入标准的文献最终纳入本研究。研究按文献语言、发表国家、发表年份及研究聚焦领域对数据进行分类。在亨廷顿舞蹈症相关研究的发文量方面，美国位居首位，占总发文量的近30%；其次为英国与德国，发文占比分别为10%与7%。就文献语种而言，98%的出版物以英文撰写。首篇关于亨廷顿舞蹈症的文献发表于1974年，自1996年起，该领域的发文量呈现爆发式增长。从涌现的各研究领域来看，绝大多数文献聚焦于神经科学与神经病学领域，这与亨廷顿舞蹈症作为神经退行性疾病的属性高度契合。此外，精神病学、遗传学与分子生物学等领域的相关文献也占据较大比重。