The Neuropathology Core carries out state-of-the-art neuropathological examination of brain, spinal cord and other tissue samples obtained from individuals affected by neurodegenerative dementia and/or other related neurodegenerative diseases. The Core is composed of five different laboratories: histology and immunohistochemistry, electron microscopy, molecular biology, biochemistry, as well as a small-animal laboratory dedicated to the study of murine models of human diseases. Furthermore, the Core functions as brain-bank facility, which stores samples from hundreds of autopsied cases and supplies them to research investigators around the world.
In addition to providing the definitive diagnosis of disease through the direct observation of the pathology in the nervous system, the Neuropathology Core carries out genetic analyses on a wide range of genes associated with inherited forms of neurodegenerative diseases, as guided by each case's clinical presentation, family history and neuropathological findings. The biochemistry laboratory pursues isolation and identification of protein deposits that constitute the pathological hallmarks of disease, with the aim to identify new biological pathways of neurodegeneration.
The focus of our research interest is the study of clinicopathological correlations in both sporadic and inherited neurodegenerative diseases, such as Alzheimer disease, frontotemporal dementia (FTD), corticobasal syndrome, progressive supranuclear palsy, FTD and Parkinsonism linked to chromosome 17 (FTDP-17), Parkinson disease, diffuse Lewy body disease, amyotrophic lateral sclerosis, neuroferritinopathy, and neuroserpinopathy, as well as prion diseases such as Creutzfeldt-Jakob disease, and Gerstmann-Sträussler-Scheinker disease (GSS).
In the past 20 years, we have been among the first to discover mutations in the Amyloid Precursor Protein gene (APP) and Presenilin 1 gene (PSEN1) implicated in the pathogenesis of early-onset Alzheimer disease. In addition, we reported mutations in the MAPT and in the Progranulin genes associated with FTDP-17, as well as mutations in the Valosin-Containing Protein gene associated with "Inclusion Body Myopathy with Paget's disease of the bone and FTD". We also found several novel mutations in the Prion Protein gene (PRNP), as well as genetic mutations of the Neuroserpin gene (SERPINI1), α-synuclein gene (SNCA) and Ferritin Light Polypeptide (FTL) gene.
Our scientific collaborations include those with the National Institute on Aging, the National Institute of Neurological Disorders and Stroke, the National Prion Diseases Pathology Surveillance Center, the Parkinson's Research: The Organized Genetics Initiative (PROGENI), the Association for Frontotemporal Dementia, the Medical Research Council of the United Kingdom, and numerous other public and academic institutions.