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Seeds of Dementia: Misfolded Proteins in Neurodegenerative Disorders

Study Rationale:

Alzheimer's disease (AD), Lewy Body Dementia (LBD) and frontotemporal dementia (FTD) are characterized by the accumulation of specific proteins in the brain. The identification of these proteins is necessary to make a definite diagnosis of AD, LBD or FTD but, unfortunately, it can be performed only on post-mortem brain tissue. Recently, a trace amount of these pathological proteins was found in the olfactory mucosa (brain region that detects smell; OM) of individuals with dementia. Since collection of OM is safe and minimally invasive, we will set up a diagnostic test on OM samples which will help discriminate those with AD, LBD and FTD-tau at early stages.


Our aim is to demonstrate that the OM, collected from individuals at early stages of dementia, contains disease-specific pathological proteins that can be used to set up a diagnostic test which will help to discriminate between AD, LBD and FTD-tau.

Study Design:

Olfactory mucosa samples, collected from a well-characterized group of individuals with AD, LBD and FTD-tau, will be analyzed using an ultrasensitive test (RT-QuIC) that can detect the presence of a trace amount of specific pathological proteins, otherwise undetectable using conventional tests. Detection and identification of these proteins will allow us to identify the type of dementia at early stages when symptoms are not specific and might overlap. Results will be correlated with clinical, biochemical, neuropathological and MRI data.

Impact on Diagnosis/Treatment of Parkinson's Disease:

Olfactory dysfunction is a common symptom in individuals with neurodegenerative disorders, especially those affected by Parkinson's and Alzheimer's disease. Such impairment might arise from the accumulation of disease-related proteins in the OM. The identification of these proteins will be of fundamental importance to make the correct diagnosis at early stages of dementia, when symptoms are not specific and conventional diagnostic tests do not provide a clear answer.

Next Steps for Development:

If successful, this project could provide an innovative and strategic diagnostic tool to be used along with conventional tests that is characterized by higher specificity and sensitivity to help physicians identify pathology at early stages. Moreover, it could be used to design specific therapeutic intervention (when available) long before the brain damage occur.


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