Fragile X Premutation: Medications, Therapy and Lifestyle Advice

被引：14

作者：

Sodhi, Deepika Kour ^{[1
,2
]}

Hagerman, Randi ^{[1
,2
]}

机构：

[1] Univ Calif Davis Hlth, MIND Inst, Sacramento, CA USA

[2] Univ Calif Davis Hlth, Dept Pediat, Sacramento, CA USA

来源：

PHARMACOGENOMICS & PERSONALIZED MEDICINE | 2021年 / 14卷

基金：

美国国家卫生研究院;

关键词：

FMR1; fragile X mental retardation 1; fragile X premutation; medication; antioxidants; exercise; FXTAS; FXPOI; FXAND; PRIMARY OVARIAN INSUFFICIENCY; COGNITIVE-BEHAVIORAL THERAPY; TREMOR-ATAXIA-SYNDROME; FMR1 GENE PREMUTATION; LOW-BACK-PAIN; TREMOR/ATAXIA-SYNDROME; ANXIETY DISORDERS; VITAMIN-E; PSYCHIATRIC-DISORDERS; PHYSICAL-EXERCISE;

D O I：

10.2147/PGPM.S338846

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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.

引用

页码：1689 / 1699

页数：11

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