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.
Originally Published by the Seattle Children’s Research Institute A study conducted by an international research team, which included investigators from NeuRA and the Seattle Children’s Research Institute, implicates variants in four genes as a primary cause of non-syndromic cleft lip and palate in humans. The genes, associated for the first time with cleft lip and palate, encode proteins that […]