Ferrari, R; (2014) Genetic analysis of frontotemporal dementia and progressive supra nuclear palsy (Ferrari, R, Trans.). Doctoral thesis , UCL (University College London).

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Abstract

Genome-wide association study (GWAS) is an effective method for mapping genetic variants underlying common and complex diseases. This thesis describes the investigation of the disorders, frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP). FTD affects the frontal/temporal lobes and presents behavioural changes (bvFTD), cognitive decline or language dysfunction (primary progressive aphasia [PPA]), whilst PSP affects predominantly the brain stem resulting in loss of balance, falls, and parkinsonian signatures. Beside recent advancements in the understanding of the clinical and neuropathological characteristics as well as the genetics associated with these diseases, their underlying pathogenic mechanisms are still unclear. The main aims of the work in this thesis were to perform a complete GWAS on clinical FTD and a follow up targeted study of new loci identified in the recent PSP-GWAS in a cohort of ~100 pathologically confirmed PSP cases. By completing these projects the main expected outcomes were to: 1 – Identify novel risk loci associated with FTD, and; 2 – Identify SNPs and haplotypes associated with increased risk of developing PSP and genetic variants possibly affecting expression and/or splicing of transcription elements relevant to PSP.

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