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DLB Genetics

  • Research type

    Research Study

  • Full title

    Detecting Susceptibility Genes for Dementia with Lewy Bodies



  • Contact name

    Rachel Marshall

  • Contact email

  • Sponsor organisation

    Cardiff University

  • Duration of Study in the UK

    2 years, 5 months, 31 days

  • Research summary

    Dementia with Lewy bodies (DLB) is the most common dementia subtype in older people after Alzheimer’s disease (AD) (Heidebrink 2002). DLB currently accounts for around one in 25 dementia cases diagnosed in the community and one in 13 cases in secondary care, however, it constitutes 10–15% of dementia cases at autopsy which suggests that many cases, in fact as many as 50%, are missed (Palmqvist et al. 2009).

    DLB shares symptomology with both Alzheimer’s disease (AD) and Parkinson’s disease (PD), making diagnosis difficult. Indeed, neuropathological examination is not always conclusive for a diagnosis of DLB, and further highlights the overlapping characteristics of DLB, AD and PD. A proportion of DLB diagnosed patients present with AD pathology in various degrees (Marui et al. 2004), and the presence of Lewy bodies is a hallmark feature of both DLB and PD. Given the difficulty in diagnosis of DLB it is thought that disease could account for up to 15% of dementia patients, compared to the 4-10% currently thought to be accounted for by disease.

    This research aims to utilise our existing and comprehensive sample collection network to collect a large and therefore well powered DLB cohort that we will use in unison with our already collected elderly control cohort to identify risk genes for disease. We will undertake genome-wide association studies to better understand the genetic variants that may contribute to the development and progression of the disease. Additionally, we will utilise our existing AD and PD datasets to investigate the overlapping and novel aspects of the genetic aetiology of these forms of neurodegenerative disease. Such understanding would allow for more accurate diagnosis, disease risk prediction, targets for therapeutic intervention and stratification of individuals for precision medicine.

  • REC name

    Wales REC 4

  • REC reference


  • Date of REC Opinion

    12 Sep 2018

  • REC opinion

    Favourable Opinion