PDF(Pubmed)
Abstract：
BACKGROUND: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.
OBJECTIVE: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
METHODS: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.
RESULTS: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).
CONCLUSIONS: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.
OBJECTIVE: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
METHODS: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.
RESULTS: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).
CONCLUSIONS: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.
摘要：
背景：先前的研究表明，在某些类型的肌张力障碍中，女性个体数量超过男性个体。很少有研究解决影响这些性别差异的因素或其潜在的生物学机制。
目的：评估肌张力障碍性别差异的潜在因素，并探索这些差异的潜在机制。
方法：分析了各种类型的肌张力障碍患者的数据与性别的关系。数据来自两个不同的来源。一个来源是肌张力障碍联盟数据库，主要包括特发性成人发作的局灶性和节段性肌张力障碍。第二个来源是MDSGene数据库，主要包含早发性单基因肌张力障碍。
结果：来自肌张力障碍联盟的3222名个体包括71％的女性参与者和29％的男性参与者，总体男女比例（F：M）为2.4。该比率根据受影响的身体区域以及肌张力障碍是否特定于任务而变化。女性的优势取决于年龄。性别对共存的震颤没有显著影响，手势对抗，抑郁或焦虑。在MDSGene数据库的1377个人中，女性参与者在某些基因上超过男性参与者(GNAL，GCH1和ANO3），但不适用于其他基因（THAP1，TH，和TOR1A）。
结论：这些结果与先前的研究一致，这些研究表明，成年特发性和早发性单基因肌张力障碍的女性个体数量超过男性个体。这些结果通过揭示性别比例取决于肌张力障碍的类型来扩展先前的观察，年龄,和潜在的遗传学。
目的：评估肌张力障碍性别差异的潜在因素，并探索这些差异的潜在机制。
方法：分析了各种类型的肌张力障碍患者的数据与性别的关系。数据来自两个不同的来源。一个来源是肌张力障碍联盟数据库，主要包括特发性成人发作的局灶性和节段性肌张力障碍。第二个来源是MDSGene数据库，主要包含早发性单基因肌张力障碍。
结果：来自肌张力障碍联盟的3222名个体包括71％的女性参与者和29％的男性参与者，总体男女比例（F：M）为2.4。该比率根据受影响的身体区域以及肌张力障碍是否特定于任务而变化。女性的优势取决于年龄。性别对共存的震颤没有显著影响，手势对抗，抑郁或焦虑。在MDSGene数据库的1377个人中，女性参与者在某些基因上超过男性参与者(GNAL，GCH1和ANO3），但不适用于其他基因（THAP1，TH，和TOR1A）。
结论：这些结果与先前的研究一致，这些研究表明，成年特发性和早发性单基因肌张力障碍的女性个体数量超过男性个体。这些结果通过揭示性别比例取决于肌张力障碍的类型来扩展先前的观察，年龄,和潜在的遗传学。
