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Neurologists further examined suspected cases to confirm the diagnosis; our main outcome was neurologist confirmed dementia.
Specifically, Olazarán and colleagues included in their review participants with any kind of dementia and in fact allowed a small proportion of participants with cognitive decline but without confirmed dementia to be included.
In a case of pathologically confirmed dementia with Lewy bodies and severe CAA (Bacskai et al., 2007), ante-mortem PiB retention levels correlated with post-mortem biochemical measures of Aβ and PiB binding in three brain regions.
The characteristics of those with dementia were assessed and rates of concordance for pathological confirmed dementia were examined.
The described failure factors 'competition for delivering care' and 'not including patients without a confirmed dementia diagnosis' were much stronger impeding factors in the linkage model.
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Tests used to confirm dementia in the general population are not reliable or valid in populations with congenital intellectual disability.
More recently, the 90+ Study confirmed that dementia prevalence and incidence continue to increase after age 90, but only for women [ 6, 30].
Considering the series firstly from a clinical perspective, certain relatively specific clinicopathological associations were confirmed: semantic dementia with TDP-C pathology; FTD-MND with TDP-B pathology; young-onset behavioural variant FTD with FUS pathology; and progressive supranuclear palsy syndrome with progressive supranuclear palsy pathology.
Connection of LGMD1D to DNAJB6 raised interest in whether LGMD1D patients develop central nervous system (CNS) disease in addition to their myopathy, and in fact one patient (with a known DNAJB6 mutation) has since been reported with pathologically confirmed frontotemporal dementia (FTD) and no mutation in any of the known FTD genes [ 10].
Our data confirm known dementia risk factors and sequelae that should be managed adequately and in due time.
Twin pairs discordant for neuropathologically confirmed Lewy body dementia.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com