General Anesthetic Use in Fragile X Spectrum Disorders

Ligsay, Andrew; Eldeeb, Marwa; Salcedo-Arellano, María Jimena; Schloemerkemper, Nina; Grayson, Jeremy; Hagerman, Randi J.

doi:10.1097/ana.0000000000000508

Cited by 20 publications

(15 citation statements)

References 82 publications

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“…The importance of identifying the premutation as the etiology of FXAND is to treat the oxidative stress, mitochondrial dysfunction, and other complicating comorbidities such as hypertension, migraine headaches, thyroid dysfunction, and chronic pain that are associated with the premutation. It is also important so that providers can recommend the avoidance of toxins in the environment such as excessive use of alcohol or opioids ( 69 , 78 , 98 ), which can cause more CNS disease; exposure to pesticides, which can worsen white matter disease and brain atrophy ( 99 ); isofluorane use in aging patients, because this may be the most toxic anesthetic agent and it may precipitate FXTAS symptoms ( 100 ). In general, we recommend daily exercise to help with depression or anxiety and also stimulate neurogenesis and improve mitochondrial function ( 62 ).…”

Section: Treatment Of Fxandmentioning

confidence: 99%

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

et al. 2018

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Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism. This review focuses on neuropsychiatric disorders frequently experienced by premutation carriers with 55 to 200 CGG repeats and the pathophysiology involves elevated FMR1 mRNA levels, which is different from the absence or deficiency of fragile X mental retardation protein (FMRP) seen in FXS. Neuropsychiatric disorders are the most common problems associated with the premutation, and they affect approximately 50% of individuals with 55 to 200 CGG repeats in the FMR1 gene. Neuropsychiatric disorders in children with the premutation include anxiety, ADHD, social deficits, or autism spectrum disorders (ASD). In adults with the premutation, anxiety and depression are the most common problems, although obsessive compulsive disorder, ADHD, and substance abuse are also common. These problems are often exacerbated by chronic fatigue, chronic pain, fibromyalgia, autoimmune disorders and sleep problems, which are also associated with the premutation. Here we review the clinical studies, neuropathology and molecular underpinnings of RNA toxicity associated with the premutation. We also propose the name Fragile X-associated Neuropsychiatric Disorders (FXAND) in an effort to promote research and the use of fragile X DNA testing to enhance recognition and treatment for these disorders.

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Section: Treatment Of Fxandmentioning

confidence: 99%

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

et al. 2018

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“…4 His symptoms also started after general surgery for his prostate cancer and the anesthesia and the cancer itself could have precipitated the onset. 23 Although his tremor was minimal, his ataxia was more problematic. He also developed anemia and chronic renal failure and these problems can occasionally be seen in those with FXTAS.…”

Section: Discussionmentioning

confidence: 99%

<p>Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease</p>

Aydin¹,

Schneider²,

Protić³

et al. 2020

CIA

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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer's disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases.

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“…Moreover, the onset and progression of FXTAS might be accelerated if the PM carriers have a history of exposure to toxic substances. A dramatic decline in neurocognitive and neuromotor function after unrelated-FXTAS surgery requiring general anesthesia [ 43 , 71 ], chemotherapy for breast cancer [ 72 ], exposure to chemical agents including insecticides, pesticides, herbicides, and chemicals for building [ 43 ], and chronic substance use [ 45 , 73 , 74 ] have been reported.…”

Section: Clinical Presentation Of Fxtasmentioning

confidence: 99%

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

Cabal-Herrera

Tassanakijpanich

Salcedo-Arellano

et al. 2020

IJMS

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The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has excessive levels of FMR1 mRNA that lead to toxicity and mitochondrial dysfunction. The clinical features usually begin in the 60 s with an action or intention tremor followed by cerebellar ataxia, although 20% have only ataxia. MRI features include brain atrophy and white matter disease, especially in the middle cerebellar peduncles, periventricular areas, and splenium of the corpus callosum. Neurocognitive problems include memory and executive function deficits, although 50% of males can develop dementia. Females can be less affected by FXTAS because of a second X chromosome that does not carry the premutation. Approximately 40% of males and 16% of female carriers develop FXTAS. Since the premutation can occur in less than 1 in 200 women and 1 in 400 men, the FXTAS diagnosis should be considered in patients that present with tremor, ataxia, parkinsonian symptoms, neuropathy, and psychiatric problems. If a family history of a fragile X mutation is known, then FMR1 DNA testing is essential in patients with these symptoms.

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General Anesthetic Use in Fragile X Spectrum Disorders

Cited by 20 publications

References 82 publications

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

<p>Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease</p>

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

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