Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation

Summers, Scott M.; Cogswell, Jennifer B.; Goodrich, John E; Mu, Yi; Nguyen, Danh V.; Brass, Steven D.; Hagerman, Randi J.

doi:10.1111/cge.12249

Cited by 29 publications

(19 citation statements)

References 19 publications

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“…These findings may be related to higher rates of Restless Legs Syndrome and sleep apnea, both of which have shown multiple-fold increases in subsets of the premutation population [93,94]. Sleep apnea is common in older carriers with FXTAS.…”

Section: Reviewmentioning

confidence: 99%

Associated features in females with an FMR1 premutation

Wheeler

Bailey

Berry‐Kravis

et al. 2014

J Neurodevelop Disord

120

109

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Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested.

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Section: Reviewmentioning

confidence: 99%

Associated features in females with an FMR1 premutation

Wheeler

Bailey

Berry‐Kravis

et al. 2014

J Neurodevelop Disord

120

109

View full text Add to dashboard Cite

show abstract

“…Multiple additional phenotypes have been associated with the premutation, including hypertension 36,37 , migraine headaches 11,38 , fibromyalgia 37,39,40 , thyroid dysfunction 37,39,41 , sleep disturbances 42,43 , sleep apnoea 44 , restless legs syndrome 43 , central pain sensitivity syndrome 11,40 , tandem gait abnormalities 11 and neuropathy 11,37,[45][46][47] (TABLE 1). These associations have been summarized in recent reviews 2,8 .…”

Section: Features Of Premutation Disordersmentioning

confidence: 99%

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

2016

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Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of these phenotypes is fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in the majority of ageing male premutation carriers but in fewer than 20% of ageing women with the premutation. The prevalence of the premutation is 1 in 150-300 females, and 1 in 400-850 males, so physicians are likely to see people affected by FXTAS. Fragile X DNA testing is broadly available in the Western world. The clinical phenotype of FXTAS at presentation can vary and includes intention tremor, cerebellar ataxia, neuropathic pain, memory and/or executive function deficits, parkinsonian features, and psychological disorders, such as depression, anxiety and/or apathy. FXTAS causes brain atrophy and white matter disease, usually in the middle cerebellar peduncles, the periventricular area, and the splenium and/or genu of the corpus callosum. Here, we review the complexities involved in the clinical management of FXTAS and consider how targeted treatment for these clinical features of FXTAS will result from advances in our understanding of the molecular mechanisms that underlie this neurodegenerative disorder. Such targeted approaches should also be more broadly applicable to earlier forms of clinical involvement among premutation carriers.

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“…Likewise, carriers with and without FXTAS have substantial rates of thyroid dysfunction, a known risk factor for mood and anxiety disorders [51]. Carriers may also have an increased susceptibility to conditions such as migraine headaches, fibromyalgia, restless legs syndrome and sleep apnea [55–58]. On a stress-diathesis model of the development of neuropsychiatric disorders, all of these factors may combine with underlying brain abnormalities to produce an elevated risk for neuropsychiatric phenotypes in carriers.…”

Section: Neuropsychiatric Phenotypes In Adult Carriers Without Fxtasmentioning

confidence: 99%

Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers

et al. 2014

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Fragile X-associated disorders (FXD) are a group of disorders caused by expansion of non-coding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome (FXS), is the most common heritable cause of intellectual disability, and is caused by large CGG repeat expansions (>200) resulting in silencing of the FMR1 gene. An increasingly recognized number of neuropsychiatric FXD have recently been identified that are caused by ‘premutation’ range expansions (55-200). These disorders are characterized by a spectrum of neuropsychiatric manifestations ranging from an increased risk of neurodevelopmental, mood and anxiety disorders to neurodegenerative phenotypes such as the fragile X-associated tremor ataxia syndrome (FXTAS). Here, we review advances in the clinical understanding of neuropsychiatric disorders in premutation carriers across the lifespan and offer guidance for the detection of such disorders by practicing psychiatrists and neurologists.

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Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation

Cited by 29 publications

References 19 publications

Associated features in females with an FMR1 premutation

Associated features in females with an FMR1 premutation

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers

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