Gamze Kilic-Berkmen, Laura M Scorr, Lucas McKay, Mehreen Thayani, Yuping Donsante, Joel S Perlmutter, Scott A Norris, Laura Wright, Christine Klein, Jeanne S Feuerstein, Abhimanyu Mahajan, Aparna Wagle-Shukla, Irene Malaty, Mark S LeDoux, Sarah Pirio-Richardson, Alexander Pantelyat, Emile Moukheiber, Samuel Frank, William Ondo, Rachel Saunders-Pullman, Katja Lohmann, Ellen J Hess, H A Jinnah
{"title":"肌张力障碍的性别差异。","authors":"Gamze Kilic-Berkmen, Laura M Scorr, Lucas McKay, Mehreen Thayani, Yuping Donsante, Joel S Perlmutter, Scott A Norris, Laura Wright, Christine Klein, Jeanne S Feuerstein, Abhimanyu Mahajan, Aparna Wagle-Shukla, Irene Malaty, Mark S LeDoux, Sarah Pirio-Richardson, Alexander Pantelyat, Emile Moukheiber, Samuel Frank, William Ondo, Rachel Saunders-Pullman, Katja Lohmann, Ellen J Hess, H A Jinnah","doi":"10.1002/mdc3.14059","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objectives: </strong>To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329567/pdf/","citationCount":"0","resultStr":"{\"title\":\"Sex Differences in Dystonia.\",\"authors\":\"Gamze Kilic-Berkmen, Laura M Scorr, Lucas McKay, Mehreen Thayani, Yuping Donsante, Joel S Perlmutter, Scott A Norris, Laura Wright, Christine Klein, Jeanne S Feuerstein, Abhimanyu Mahajan, Aparna Wagle-Shukla, Irene Malaty, Mark S LeDoux, Sarah Pirio-Richardson, Alexander Pantelyat, Emile Moukheiber, Samuel Frank, William Ondo, Rachel Saunders-Pullman, Katja Lohmann, Ellen J Hess, H A Jinnah\",\"doi\":\"10.1002/mdc3.14059\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Objectives: </strong>To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329567/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.14059\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mdc3.14059","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/22 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.
Objectives: 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.
期刊介绍:
Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)