People living with, or caring for someone with, rare forms of dementia can encounter issues while obtaining a diagnosis and trying to access appropriate support. This can affect their wellbeing, quality of life, social relationships and employment status. This study makes use of an arts-based na...
Methods Semi-structured interviews were conducted via video-conferencing software with participants (N = 27), living with, or caring for someone with, a rare forms of dementia. Participants used line drawings to depict their journey from initial symptoms to the present day, followed by prompts to...
Along with other forms of dementia, it is the leading cause of death in England and Wales. However, you might not be so aware that Alzheimer’s can be passed down from parents to children, and how possessing certain genes may raise your chances of developing the condition. Fortunately, ...
as PAI causes. Their diagnosis is often challenging, due to the heterogeneity of the clinical presentation and to their low incidence and prevalence among the general population. Therefore, the current review aims to provide an overview of rare forms of paediatric PAI, offering a discussion of gen...
Additionally, 2 additional forms of congenital adrenal hyperplasia that are not ascertained by current newborn screening were highly endorsed. Our findings suggest that NBSeq could be used as a tool to further the long-standing goals of newborn screening by identifying infants at risk for ...
Agingis a collection of degenerative changes that occur in organisms that lack the ability to perpetually regenerate. Age is a major risk factor for most commonneurodegenerative diseases. Dementia becomes more common with age. The spectrum includes mild cognitive impairment, Alzheimer's disease, cerebro...
"Our findings indicate that different mutations in the same gene or different number of copies of a particular mutation may lead to very distinct forms of dementia," said Lindsay Farrer, chief of the Biomedical Genetics division at Boston University School of Medicine, corresponding author of the ...
[111–113] and more rarely vascular dementia [114,115]. Using data from the Fabry Registry®, the prevalence of strokes in FD was estimated to be 6.9% in males and 4.3% in females, much higher than in the general population. Median age at first stroke was 39 in men and 46 years ...
Childhood dementia comprises a group of devastating, predominantly neurodegenerative conditions, characterised by global and progressive neurocognitive decline, relative loss of developmental skills, as well as a shortened life expectancy in infants, children, and adolescents [1]. Whilst individually rare, ...
Family-based linkage studies, including Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy and Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy,7 identified rare forms of stroke. Ischemic stroke studies include large candidate gene ...