Publications by authors named "M R Rafii"
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.
Methods: A multi-center, retrospective study of individuals with DSRD was performed.
The U1 snRNP complex recognizes pre-mRNA splicing sites in the early stages of spliceosome assembly and suppresses premature cleavage and polyadenylation. Its dysfunction may precede Alzheimer's disease (AD) hallmarks. Here we evaluated the effects of a synthetic single-stranded cDNA (APT20TTMG) that interacts with U1 snRNP, in iPSC-derived neurons from a donor diagnosed with AD and in the SAMP8 mouse model.
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- - Adults with Down syndrome are genetically prone to developing Alzheimer's disease after 40, and their cholinergic system, crucial for cognitive function, shows a decline similar to Alzheimer's pathology.
- - A study using PET imaging compared cholinergic terminals in 16 non-demented adults with Down syndrome to 20 neurotypically developed individuals, focusing on brain areas like the cerebellum and cortex.
- - Results revealed that adults with Down syndrome had higher cholinergic terminal density in early adulthood, but experienced a faster decline with age compared to their neurotypical counterparts.
Article Synopsis
- - Development of Alzheimer's disease (AD) pathology occurs faster in individuals with Down's syndrome (DS) compared to others; this study focuses on comparing specific biomarkers in DS individuals and their siblings.
- - Researchers found that plasma levels of glial fibrillary acidic protein (GFAP) and pTau-217 were elevated in individuals with DS, indicating increased astrogliosis and tau pathology, and GFAP played a mediating role in the relationship between amyloid and tau levels.
- - The findings suggest that astrogliosis is crucial in the early stages of Alzheimer's in DS, and targeting neuroinflammation might be beneficial primarily for those with amyloid positivity.