Neuropathology of Neurodegenerative Diseases

The Neuropathology of Neurodegenerative Diseases Programme ensures the enhancement and integration of laboratory activities in the field of neuropathology of degenerative diseases, proteomics (neurodegenerative diseases, multiple sclerosis, normotensive hydrocephalus and psychiatric diseases) and genomics in prion diseases within the diagnostic pathways of neurological diseases, and the related research and training activities, with particular regard to technological innovations.

The Programme also ensures the introduction and application of the most advanced methods, including quantitative methods, of neuropathology, proteomics and molecular biology in studies with a strong translational impact, in the following main areas of activity:

Neuropathology

Diseases of the Central Nervous System with special reference to Neurodegenerative diseases:

• Neuropathology of Prion Diseases. The Laboratory of Neuropathology is a reference point for Emilia-Romagna and the Istituto Superiore di Sanità for the neuropathological diagnosis of prion diseases and also carries out consultancy activities outside the Region.
• Neuropathology of other neurodegenerative diseases: Alzheimer's disease, fronto-temporal dementias, synucleinopathies, motor neuron diseases, etc.

Proteomics

• Prion and prion-like neurodegenerative diseases (Creutzfeldt-Jakob disease and related syndromes, Alzheimer's disease, fronto-temporal dementia, synucleinopathies, motor neuron diseases): identification, validation and application of molecular markers for early diagnosis and prognostic assessment, including through the use and development of emerging ultrasensitive methods (e.g. RT-QuIC, SIMOA).
• Multiple sclerosis: validation and application of surrogate CSF and blood markers with diagnostic and/or prognostic value/monitoring of therapy effects.
• Normotensive hydrocephalus: validation and application of surrogate CSF and blood markers predictive of neurosurgical treatment outcome.
• Psychiatric pathology: identification and validation of surrogate CSF and blood markers predictive of the organic or functional nature of psychiatric disorder.

Genomics

Neurodegenerative prion diseases, Alzheimer's disease and other forms of inherited dementia

• Molecular genetic analysis using pathology-specific flow charts in selected patients, using multigenic panels or other NGS technologies or traditional methods (Sanger, MLPA)
• Search for genetic modifiers, predictive of age of onset and penetrance of mutations, and/or biomarkers with diagnostic and/or prognostic value
• Research into new factors and molecular mechanisms underlying neurodegenerative diseases, including through advanced bioinformatic analysis of NGS data (clinical and genomic BIG DATA) with validation in models

The laboratory and research diagnostic activities, aimed at optimising and constantly expanding the neuropathological and molecular activities in the areas of competence of the Programme, are carried out in close relation to the clinical activities of the ISNB.
The Programme is the ISNB reference for the activities of the Proteomics platform of the IRCCS Network of Neurosciences and Rehabilitation (RIN), as well as for the activities of the National Virtual Institutes of Dementia and Parkinson's disease and the new institutes that will be activated. The Programme will contribute to university level I, II, III training and refresher courses for NHS professionals.