Inter-University Attraction Poles Phase VII P7/16 Network: An integrated approach towards understanding the pathogenesis of neurodegeneration

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Work Package 1: Clinical Neurology and human pathology


Leader: Peter Paul De Deyn
Co-Leader: Wim Robberecht
Belgian Partners: Sebastiaan Engelborghs, Patrick Cras, Philip Van Damme
Associated Parners: Jean-Pierre Brion


  1. Collection of clinical data of large prospective cohorts using standardized protocols; archiving of clinical data in databases
  2. Collection of biological samples and postmortem tissues (including brain)
    The IBB Biobank brings together a unique collection of autopsied brain, nerve biopsies, CSF, plasma, serum and other biofluids on over 6000 patients with different neurodegenerative disorders. This collection is continuously expanded. In addition to the repository, the IBB brings expertise in neurology and neuropathology of brain diseases. The panel below shows classical histological central nervous system markers for AD- and FTLD-related pathologies.

  3. Neuropathological examination and diagnosis of samples in biobanks
  4. Analysis in pathological tissues of the distribution and expression of gene products of new target genes identified in neurodegenerative diseases by genetic studies.
  5. Comparative analysis of neuropathological laesions in human neurodegeneratives diseases and in animal models, to assess the validity and the translational predictability of these models (WP3)
  6. Genealogical studies to distinguish between sporadic patients and patients with a positive family history
  7. Examination of all secondary patients and their relatives in families with a strong monogenic component and families suitable for linkage studies
    We have a long tradition in working with monogenic dementia pedigrees. For each of the families presented here, we have had regular contacts with numerous relatives over the years. As such we have built a large collection of biomaterials in the VIB-NBD Translational Biobank from affected and unaffected mutation carriers as well as non-carriers.

  8. Sampling of large cohorts of patients and control individuals for genetic association studies
  9. Identification of novel phenotypes
  10. Genotype-phenotype correlations (clinical phenotype, electrophysiology, imaging, biochemical markers and postmortem examination)
    Clinical characteristics of mutation carriers. a Scatter plot showing the onset ages for the SORL1 PTC and patient exclusive missense carriers versus those of PSEN1, PSEN2 and APP carriers. Mann-Whitney U test p value 0.016. b The proportion of SORL1 PTC, SORL1 missense and PSEN1, PSEN2 and APP carriers with a sporadic, unknown or positive familial history for AD (Verheijen et al, Acta Neuropathologica 2016).

  11. Documentation of natural history