Research participant Amanda Ayliffe with husband David

Genetics of Alzheimer's disease

RESEARCH STUDY

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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'I've got the best job for you dad. Your shaky arm will be perfect for it!'

Children… honest and insightful. Their innocence warms the heart. But what words do you use to explain to a child that daddy has an incurable brain disease? What words tell them that in time he may not be able to play football in the park, let alone feed himself? What words help them understand that in the later stages, dementia may also strike? Aged just 36, this was the reality that faced Steve Hartley. Parkinson's disease didn't care he was a fit, healthy, a young dad and devoted husband. It also didn't seem to care his family had no history of it. The key to defeating Parkinson's disease is early intervention, and thanks to a global research team, led by NeuRA, we're pleased to announce that early intervention may be possible. Your support, alongside national and international foundations Shake it Up Australia and the Michael J Fox Foundation, researchers have discovered that a special protein, found in people with a family history of the disease increases prior to Parkinson’s symptoms developing. This is an incredible step forward, because it means that drug therapies, aimed at blocking the increase in the protein, can be administered much earlier – even before symptoms strike. The next step is to understand when to give the drug therapies and which people will most benefit from it. But we need your help. A gift today will support vital research and in time help medical professionals around the world treat Parkinson’s disease sooner, with much better health outcomes. Thank you, in advance, for your support.  
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