Publications by authors named "E Storey"
Background: Premutation alleles of the FMR1 X-linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late-onset neurological involvements, including most severe disorder termed Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). It is intriguing that at least one-third of male, and a much lower than predicted from the X-linkage proportion of female carriers are free of this syndrome. This suggests the existence of secondary genetic factors modifying the risk of neurological involvements in these carriers.
View Article and Find Full Text PDFIntroduction Hearing loss is common in ageing populations, but thorough investigation of factors associated with objective hearing loss in otherwise healthy, community dwelling older individuals is rare. We examined prevalence of age-related hearing loss (ARHL) in healthy, community-dwelling older adults, and determined whether sociodemographic, lifestyle or health factors associate with hearing thresholds. Audiometry assessment was investigated with self-reports of hearing loss and hearing handicap.
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- The study investigates the potential link between obstructive sleep apnea (OSA) and cerebral small vessel disease (CSVD), which may contribute to dementia risk, focusing on how aspirin affects these factors in older adults over three years.
- Participants aged 70 and above without major health issues underwent sleep studies, and their brain health was assessed using MRI to measure white matter hyperintensities and silent brain infarctions.
- Findings revealed that OSA was common among participants, but it did not show a relationship with changes in brain imaging measures or retinal vessel sizes, and aspirin use did not significantly alter these outcomes.
Article Synopsis
- Oculopharyngodistal myopathy (OPDM) is a genetic muscle disease that causes drooping eyelids, trouble swallowing, and weakness in the arms and legs.
- Recent research found repeating sequences in a gene called ABCD3 in people with OPDM from European backgrounds, while similar repeats were only discovered in certain Asian groups before.
- These long repeats in the ABCD3 gene might play a role in the muscle problems seen in OPDM, suggesting a link between these repeats and the weakness that affects patients.