The aim of this study is to investigate the selective epigenetic modifications and their effect on brain's morphology and functionality in the frontotemporal dementia behavioral variant and bipolar disorder. The open-label, multicentric, interventional case-control study involves the analysis of 3 separate cohorts of patients, partly selected over the course of the past 10 years. More specifically, 80 behavioral variant Frontotemporal Dementia (bvFTD) patients (40, of whom 20 carry G4C2 expansion in the C9orf72 gene, are already available, while 40 will be prospectively recruited), 80 Bipolar Disorder (BD) patients (40, including 20 with early onset and 20 with late onset, are already available, while 40 will be prospectively recruited) and 50 healthy control (HC) subjects (20 of whom are already available from other previously approved studies), will be enrolled in this study.
For each participant a blood sample will be collected, processed, and studied in order analyze the expression of miRNA. Every participant will also undergo Nuclear Magnetic Resonance Imaging (NMR), Nuclear Magnetic Resonance Spectroscopy (1H-MRS), and Positron Emission Tomography (PET) and, lastly, a battery of behavioral scales to explore different cognitive domains will be administered to all participants by a team of psychologists and physicians. The overall estimated duration of the study is 36 months.
byFTD group: patients of either sex; 18 years of age or older; diagnosis of behavioral variant Frontotemporal Dementia according to current diagnostic criteria; presence of a signed informed consent.
BD group: patients of either sex; 18 years of age or older; diagnosis of bipolar disorder according to DSM-V criteria; presence of a signed informed consent.
HC group: patients of either sex; 18 years of age or older; subjects who have gone through the same diagnostic process as patients under suspicion of a central nervous system and/or psychiatric disorder, resulting in the absence of cognitive deficits and mood disorders; presence of a signed informed consent.
Diagnosis of Alzheimer's disease
Comorbidities interfering with the studied condition (e.g. other neurological diseases or history of substance or alcohol abuse)
Diseases with an inflammatory component (e.g. autoimmune diseases, tumors)
Pregnancy
Parallel
DISBAND protocol
Diagnostic testFor each participant blood samples will be collected, processed and studied to analyse microRNA expression, more specifically investigating non-coding RNA (ncRNA). Each participant will undergo a multimodal neuroimaging session, composed of structural MRI, 1H-MRS and PET.
Identification of ncRNA transcripts and a specific noncoding RNA profile in neuron-derived exosomes
Identification of ncRNA transcripts and a specific noncoding RNA profile in neuron-derived exosomes in patients with bvFTD and BD
Differences in brain structure in terms of white matter volumes
Evaluation of the differences in brain structure in terms of white matter volumes comparing the three groups, using structural MRI
Differences in brain structure in terms of gray matter volumes
Evaluation of the differences in brain structure in terms of gray matter volumes comparing the three groups, using structural MRI
Differences in brain structure in terms of cortical gyrification
Evaluation of the differences in brain structure in terms of cortical gyrification comparing the three groups, using structural MRI
Creation of a machine learning model
Creation of a machine learning model that could integrate neuroimaging data and miRNA expression data to validate the best candidates identified combining imaging and epigenetic data
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