PhD defence L.J.M. (Leonie) Vergouw


Prof.dr. J.C. van Swieten


Prof.dr. V. Bonifati


Dr. F.J. de Jong

Wednesday 17 Jun 2020, 13:30 - 15:00
PhD defence
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On Wednesday 17 June 2020, L.J.M. Vergouw will defend her PhD dissertation, entitled: ‘Genetics of Dementia with Lewy Bodies’.

Dementia with Lewy bodies (DLB) is a common neurodegenerative disease in the elderly. The disease is characterized by progressive cognitive decline accompanied by parkinsonism,

hallucinations, fluctuating cognition, and REM-sleep behavior disorders. To date, no disease-modifying treatment options are available and the median survival of patients with DLB is approximately four years from diagnosis. The pathological hallmarks of DLB are cortical Lewy bodies and Lewy neurites. Pathological features, clinical symptoms and genetic factors of DLB overlap with those of Alzheimer’s disease (AD) and Parkinson’s disease (PD). The heritable component of DLB has been estimated to be approximately 60%. However, to date, only few genetic studies have been performed in DLB.

This thesis adds to the understanding of the genetics of DLB. First, it showed that DLB patients with relatives with dementia or PD have different clinical features (phenotype) than DLB patients without relatives with these diseases. Second, we confirmed that the APOE ɛ4 allele and disease-associated variants in GBA are important genetic factors associated with familial DLB and DLB with a rapidly progressive disease course. Third, we found more evidence that the recently identified LRP10 gene is associated with PD, DLB, progressive supranuclear palsy and possibly AD. Fourth, we found several new proteins in the cerebrospinal fluid which are associated with DLB. These findings may lead to more accurate diagnosis, a better prediction of prognosis, and, ultimately the development of disease-modifying treatments which could delay or prevent DLB.

The PhD defences will not take place publicly in the Senate Hall or Professor Andries Queridoroom due to the coronavirus. The candidates will defend their thesis online.

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