Research participant Amanda Ayliffe with husband David

Genetics of Alzheimer's disease


Dementia is usually thought of as a disease of ageing. However, the burden of young onset dementia, with symptoms occurring before age 65, has recently been identified as an important area not well supported by the health care system. Dr Bill Brooks has continued his development of information and support systems for use by families that have early onset hereditary dementias.

Spastic paraparesis, a form of lower limb paralysis, has frequently been associated with early onset Alzheimer’s disease. However, in those individuals with spastic paraparesis, the onset of dementia is significantly delayed. Dr John Kwok and Professor Peter Schofield have shown that none of the genes that are known to cause spastic paraparesis are associated with this variant presentation of Alzheimer’s disease. They are now using genetic linkage approaches to attempt to identify these modifier genes, which may provide therapeutic targets for the treatment of Alzheimer’s disease.

Professor Schofield has continued his support for the genetic analysis of two epidemiological studies led by campus colleagues, Professors Perminder Sachdev and Henry Brodaty. The Memory and Ageing study has recruited 1,000 individuals from the south-eastern region of Sydney while the Older Australian Twin Study is recruiting twins and their siblings from the eastern seaboard.

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Caress the Detail: A Comprehensive MRI Atlas of the in Vivo Human Brain

This project aims to deliver the most comprehensive, detailed and stereotaxically accurate MRI atlas of the canonical human brain. In human neuroscience, researchers and clinicians almost always investigate images obtained from living individuals. Yet, there is no satisfactory MRI atlas of the human brain in vivo or post-mortem. There are some population-based atlases, which valiantly solve a number of problems, but they fail to address major needs. Most problematically, they segment only a small number of brain structures, typically about 50, and they are of limited value for the interpretation of a single subject/patient. In contrast to population-based approaches, the present project will investigate normal, living subjects in detail. We aim to define approximately 800 structures, as in the histological atlas of Mai, Majtanik and Paxinos (2016), and, thus, provide a “gold standard” for science and clinical practice. We will do this by obtaining high-resolution MRI at 3T and 7T of twelve subjects through a collaboration with Markus Barth from the Centre for Advanced Imaging at the University of Queensland (UQ). The limited number of subjects will allow us to image each for longer periods, obtaining higher resolution and contrast, and to invest the required time to produce unprecedented detail in segmentation. We will produce an electronic atlas for interpreting MR images, both as a tablet application and as an online web service. The tablet application will provide a convenient and powerful exegesis of brain anatomy for researchers and clinicians. The open access web service will additionally provide images, segmentation and anatomical templates to be used with most common MR-analysis packages (e.g., SPM, FSL, MINC, BrainVoyager). This will be hosted in collaboration with UQ, supporting and complementing their population-based atlas.