{"title":"Fragile X Premutation: Medications, Therapy and Lifestyle Advice.","authors":"Deepika Kour Sodhi, Randi Hagerman","doi":"10.2147/PGPM.S338846","DOIUrl":null,"url":null,"abstract":"<p><p>The fragile X premutation is characterized by 55-200 CGG repeats in the 5' untranslated region of <i>FMR1,</i> whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"1689-1699"},"PeriodicalIF":0.0000,"publicationDate":"2021-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ff/36/pgpm-14-1689.PMC8721286.pdf","citationCount":"6","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pharmacogenomics and Personalized Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2147/PGPM.S338846","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 6
Abstract
The fragile X premutation is characterized by 55-200 CGG repeats in the 5' untranslated region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.
脆性X突变的特征是FMR1的5'非翻译区有55-200个CGG重复序列，而完全脆性X突变的特征是超过200个重复序列和完全甲基化，表现为脆性X综合征(fragile X syndrome, FXS)。临床涉及的前兆谱包括脆性x相关震颤/共济失调综合征(FXTAS)，脆性x相关原发性卵巢功能不全(FXPOI)和脆性x相关神经精神疾病(FXAND)。此外，突变前携带者还遭受各种其他健康问题，如内分泌异常和自身免疫性问题。在本文中，我们讨论了携带者面临的不同健康问题和干预措施，包括药物，治疗和生活方式的改变，可以改善他们的健康。
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