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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Abdominal muscle stimulation to improve bowel function in spinal cord injury

Bowel complications, resulting from impaired bowel function, are common for people living with a spinal cord injury (SCI). As a result, people with a SCI have high rates of bowel related illness, even compared with those with other neurological disorders. This includes high rates of abdominal pain, constipation, faecal incontinence and bloating. These problems lower the quality of life of people with a SCI and place a financial burden on the health system. A treatment that improves bowel function for people with a SCI should reduce illness, improve quality of life and lead to a large cost saving for health care providers. Bowel problems have traditionally been managed with manual and pharmacological interventions, such as digital rectal stimulation, enemas, and suppositories. These solutions are usually only partially effective, highlighting the need for improved interventions. The abdominal muscles are one of the major muscle groups used during defecation. Training the abdominal muscles should improve bowel function by increasing abdominal pressure. During our previous Abdominal FES research with people with a SCI, we observed that Abdominal FES appeared to lead to more consistent and effective bowel motion. However, this evidence remains anecdotal. As such, we are going to undertake a large randomised controlled trial to investigate the effectiveness of Abdominal FES to improve the bowel function of people with a SCI. This study will make use of a novel measurement system (SmartPill, Medtronic) that can be swallowed to measure whole gut and colonic transit time. We will also assess whether Abdominal FES can change constipation-related quality of life and the use of laxatives and manual procedures, as well as the frequency of defecation and the time taken. A positive outcome from this study is likely to lead to the rapid clinical translation of this technology for people living with a SCI.
PROJECT