We'd like your feedback
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Millie
Beament
m.beament@ucl.ac.uk
Prof
Nick
Fox
nfox@dementia.ion.ucl.ac.uk
Floey
Urban
floey.urban@nhs.net
Ms
Suzie
Barker
suzie.barker@ucl.ac.uk
Other degenerative diseases of the nervous systemOrganic, including symptomatic, mental disorders
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
Molecular genetic analysis of families multiply affected by dementia, has been instrumental in working out the aetiology of a number of diseases including early onset Alzheimer’s disease (AD) and frontotemporal dementia (FTLD). Thus mutations in the amyloid precursor protein gene and in the presenilin genes have been shown to cause AD while mutations in the tau, Progranulin and C9orf72 genes cause FTLD. These findings have been influential in developing hypotheses of pathogenesis and have led to the development of disease models. However, in many cases of early onset disease with or without strong family histories these mutations are not found. The aetiology of the dementia in these cases is unknown. We wish to investigate whether these unexplained cases are caused by novel gene mutations or associated with genetic variations that may cause disease or modify risk or phenotype. Participating patients and volunteers with a family member with dementia will be asked at the time of entry to the study whether they would wish to be informed if the project leads to the possible development of a genetic test for Alzheimer’s disease, frontotemporal lobar degeneration or a related dementia. This will allow the family to seek formal neurogenetic disease gene confirmation via an accredited neurogenetics service and to seek predictive testing via an NHS clinical genetics service should that be required. The time lag between identification of disease gene mutations on a research basis and the transition to a clinical genetic test is however variable.
Where genetic analysis of the sample provided by an affected individual reveals a potentially significant finding, the research team may wish to invite other family members to provide a sample in order to determine segregation of the genetic mutation with the disease. Where an affected individual has indicated that they would not wish to be informed there will be no approach to other family members.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Case-controlled study;
You can take part if:
You may not be able to take part if:
Under age 18 years Unable or unwilling to provide a blood or saliva sample Unable to provide informed consent and no consultee identified
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Prof
Nick
Fox
nfox@dementia.ion.ucl.ac.uk
Floey
Urban
floey.urban@nhs.net
Ms
Suzie
Barker
suzie.barker@ucl.ac.uk
Millie
Beament
m.beament@ucl.ac.uk
The study is sponsored by University College London and funded by NIHR Queen Square Dementia Biomedical Research Unit .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 12758
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
