Identifying new genes and genetic factors causative of CADASIL and related stroke and dementia disorders
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Paul Dunn Thesis
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Available under License Creative Commons Attribution Non-commercial No Derivatives 4.0. |
Description
CADASIL is a rare and severe neurological disease which causes recurrent strokes, dementia, and migraines. Mutations in the NOTCH3 gene are known to cause CADASIL, however, only ~20% of patients with a clinical presentation (phenotype) of CADASIL have a genetic diagnosis. By completing whole exome sequencing, bioinformatics and statistical investigations, other genes were investigated which may be causative of CADASIL or CADASIL symptoms. This work identified several genes and genetic factors which may be causing or contributing to new variations of CADASIL and provided novel insights into the potential molecular aetiology of other stroke and dementia syndromes.
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| ID Code: | 229972 |
|---|---|
| Item Type: | QUT Thesis (PhD) |
| Supervisor: | Griffiths, Lyn & Haupt, Larisa |
| Keywords: | CADASIL, Whole exome sequencing, Cerebral small vessel disease, NOTCH3, Neurogenetics, Burden test, Next generation sequencing |
| DOI: | 10.5204/thesis.eprints.229972 |
| Divisions: | Current > QUT Faculties and Divisions > Faculty of Health Current > Schools > School of Biomedical Sciences |
| Institution: | Queensland University of Technology |
| Deposited On: | 27 Apr 2022 04:10 |
| Last Modified: | 17 Mar 2023 14:00 |
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