Laboratory of Neurodegenerative and Demyelinating Diseases

Analyses for the differential diagnosis of dementias are performed in the laboratory on cerebrospinal fluid (CSF) and plasma. These analyses are carried out using advanced instrumentation for the determination of pathogenic liquor proteins, such as amyloid protein and tau protein (Aβ1-42, Aβ1-40, total tau, and P-tau181), and plasma proteins, such as light chain Neurofilaments and Ptau217. Furthermore, for familial forms of dementia, often with early onset, genetic analysis of the clinical exome (Next Generation Sequencing – NGS) is performed to screen 5000 genes for the determination of causative mutations.

For the diagnosis of Multiple Sclerosis, the production of IgG in the cerebrospinal fluid and serum is investigated through the determination of oligoclonal bands using the isoelectric focusing technique.

Diagnostic analyses initiate targeted research paths aimed at better understanding the mechanisms underlying neurodegenerative and demyelinating pathologies. The main research lines include the study of innovative biomarkers for early diagnosis and the progression of dementias; in this field, particular attention is paid to the study of neuronal and glial-derived plasma extracellular vesicles. These vesicles represent great potential for the research of new biomarkers present in the peripheral circulation but capable of reflecting physiological and pathological events occurring at the brain level. Another aspect of research, which has historically characterized the laboratory, is represented by the study of the role of non-coding RNAs in neurological pathologies. Finally, great attention is paid to the study of the genome and the discovery of new mutations for genotype-phenotype correlation using advanced sequencing techniques.