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Query: UMLS:C0037315 (
sleep apnea
)
8,000
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This report seeks to establish the prevalence of
sleep apnea
in patients with the
fragile X mental retardation 1
(
FMR1
) premutation with and without fragile X-associated tremor/ataxia syndrome (FXTAS) and to determine any correlation between CGG repeat and
FMR1
mRNA levels with
sleep apnea
prevalence. Demographic and medical data from 430 (229 males, 201 females) participants were used in this analysis. Participants included premutation carriers with (n = 118) and without FXTAS (n = 174) as well as controls without the premutation (n = 123). Logistic regression models were employed to estimate the odds ratio of
sleep apnea
relative to controls, adjusted for age and gender, and also to examine potential association with CGG size and
FMR1
mRNA expression level. The observed proportion of
sleep apnea
in premutation carriers with and without FXTAS and controls are 31.4% (37/118), 8.6% (15/174), and 13.8% (17/123), respectively. The adjusted odds of
sleep apnea
for premutation carriers with FXTAS is about 3.4 times that compared to controls (odds ratio, OR = 3.4, 95% confidence interval (CI) 1.8-7.4; P = 0.001), and similarly relative to premutation carriers without FXTAS (OR = 2.9, 95% CI 1.2-6.9; P = 0.014). The risk of
sleep apnea
was not different between controls and premutation carriers without FXTAS. The presence of
sleep apnea
is not associated with CGG repeat numbers nor
FMR1
mRNA expression level among premutation carriers. Our data supports a higher prevalence and risk of
sleep apnea
in patients with FXTAS. We recommend that all patients diagnosed with FXTAS be screened for
sleep apnea
given the negative and perhaps accelerative impact
sleep apnea
may have on their FXTAS progression.
...
PMID:Sleep apnea in fragile X premutation carriers with and without FXTAS. 2193 36
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease with motor, psychiatric, and cognitive manifestations that occurs in carriers of the
fragile X mental retardation 1
( FMR1) gene premutations. This was a retrospective chart review of 196 individuals (127 men and 69 women) with FXTAS. Forty-six (23%) participants were cognitively impaired, of whom 19 (10%) had dementia. Risk factors for dementia were examined (CGG repeat size; alcohol, benzodiazepine, and opioid use; diabetes; hyperlipidemia; hypertension; hypothyroidism; obesity;
sleep apnea
; surgeries with general anesthesia; depression; family history of dementia). Thirteen individuals with FXTAS and dementia were then compared to 13 cognitively intact individuals matched on age, gender, and FXTAS stage. CGG repeat size was significantly higher (mean = 98.5, standard deviation [SD] = 22.2) in the dementia group, compared to the cognitively intact group (mean = 81.6, SD = 11.5; P = .0256). These results show that CGG repeat size is a risk factor for FXTAS dementia.
...
PMID:Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. 2764 92
