The Degenerating brain

Improving diagnosis and treatment for patients with degenerative disorders

Cambridge scientists were part of the collaborative team that discovered the Huntington's disease gene

Degenerative brain diseases have an enormous impact on our aging society. Alzheimer's disease progressively robs its victims of their memory. Parkinson's disease leads to impairments in movement. Frontotemporal dementia causes bewildering changes in a person's thoughts and behaviour. Huntington's disease painstakingly deprives a person of their ability to walk, talk, think and reason, often as early as in their mid 30s and 40s.

In all of these degenerative brain diseases, the time from the onset of symptoms until death can be as many as ten or twenty years, with many sufferers' lives characterised by a total loss of independence in their final years. The staggering emotional toll that these diseases have on their victims and their families, as well as the economic cost to society, has led neuroscientists all over the world to strive to identify effective prevention and treatment strategies.

Addenbrooke's Hospital in Cambridge is the only place in the UK to provide genetic testing for the tau gene

Local scientists are investigating Alzheimer's disease, Parkinson's disease, fronto-temporal dementia and Huntington's disease from the genetic level to clinical symptoms. In Alzheimer's disease, work done in Cambridge was the first to show that the microtubule-associated protein tau is the major component of the filaments that form the neurofibrillary tangles in this disease and other tauopathies. Cambridge neuroscientists discovered that alphasynuclein is the major component of Lewy bodies, the characteristic aggregates of Parkinson's disease. One of the most useful models to study the mechanisms of deposition of alphasynuclein in Parkinson's disease was produced in Cambridge. The link between tau and neurodegeneration was established in Cambridge, with the identification of one of the first genetic mutations in the tau gene as the cause of some familial forms of fronto-temporal dementia. Cambridge scientists were part of the collaborative team that discovered the Huntington's disease gene. The first genetic animal model of Huntington's disease was characterised behaviourally here. Scientists at the University showed recently that novel and important cellular and physiological processes, such as autophagy and circadian rhythm deficits, contribute to the molecular neuropathology of Huntington's disease. Cambridge neuroscientists have characterised the nature of cognitive dysfunction in Huntington's disease and were amongst the first to identify specific changes in presymptomatic cases, devising a battery of tests to assess cognitive decline that is now used worldwide. Moreover, Cambridge neuropsychologists also invented a cognitive test that predicts the diagnosis of Alzheimer's disease in patients with mild cognitive impairment.

Interacting with patients provides a great stimulus for researchers, helping to reinforce the importance of identifying new mechanism-based therapies

A key component to the success of neurodegenerative brain research in Cambridge is the multidisciplinary nature of the academic interactions. Neurologists, neuropsychologists, neuropsychiatrists, neurosurgeons, molecular biologists, epidemiologists, geneticists, physicists, chemists, biochemists and pharmacologists all collaborate with the communal aim of understanding these diseases and identifing new treatments. Addenbrooke's Hospital in Cambridge is the only place in the UK to provide genetic testing for the tau gene, a result of collaborations with the Department of Medical Genetics and the Department of Clinical Neurosciences. Cambridge also has regular clinics for patients with Alzheimer's disease, Parkinson's disease, Huntington's disease and fronto-temporal dementia at the Cambridge Centre for Brain Repair. These clinics are vital in improving patient care as well helping to recruit patients for Cambridge-based studies. The Addenbrooke's Clinic allows patients and researchers to meet in a relaxed and informal atmosphere, to mutual advantage. Interacting with patients provides a great stimulus for researchers, helping to reinforce the importance of identifying new mechanism-based therapies.