| Cohort Name |
The GENetic Frontotemporal dementia Initiative |
| Cohort Acronym |
GENFI |
| DOI |
Rohrer, J. (2017). GENFI [Data set]. Dementias Platform UK. https://doi.org/10.48532/047000 |
| Study Overview |
GENFI is a five year longitudinal biomarker cohort study of genetic FTD and its associated disorders (including MND/ALS) investigating members of families with a known mutation in GRN or MAPT or an expansion in C9orf72 (including those affected with the disorder as well as at-risk members of families). Non-carrier first-degree relatives will serve as a control group.
All GENFI participants will be assessed longitudinally with a set of clinical, neuropsychiatric, cognitive, imaging and biosample protocols. |
| #Subjects at Baseline |
515 |
| Institution Name |
University College London |
| Department Name |
Dementia Research Centre |
| City |
London |
| Study/Database Website |
http://genfi.org.uk/cores.html |
| Principal Investigator (PI) |
Dr Jonathan Rohrer |
| Key Study References |
Please see Literature section |
| Population Based Study? |
No |
| Family Based Study? |
Yes |
| Clinical based sample? |
Yes |
| Is there follow-up data available? |
Yes |
| Were participants included prior to development of dementia (may refer to controls only)? |
Yes |
| Were participants included prior to development of MCI (may refer to controls only)? |
Yes |
| How is data collected? |
In person |
| Who carries out data collection? |
Interviewers, Research assistants and Clinicians |
| Does this take place in participants' homes or at a central location? |
Central |
| Do participants take part individually or are families/partners involved? |
Individually, Control participants were purposefully selected if they were mutation carriers and non-carrier first-degree relatives of people with FTD. |
| Dementia cases ascertained as part of study: |
No |
| How many times followed up? |
2 |
| Study start date |
01/04/2015 00:00:00 |
| Study end date |
01/04/2020 00:00:00 |
| Is study ongoing? |
Yes |
| Is study still recruiting? |
Yes |
| Inclusion criteria |
1. Participant is 18 years old or older.
2. The participant must be a member of a family with a known pathogenic mutation in the GRN or MAPT genes, or with a pathogenic expansion in the C9orf72 gene.
- An affected member is one who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum.
- An at-risk member is one who is a first-degree relative of a family member affected with the disease.
3. If the participant is demented or cognitively impaired there must be an available caregiver that can escort them.
4. The participant must have an identified informant.
5. The participant must be fluent in the language of their country of assessment. |
| Exclusion criteria |
1. Participant has another medical or psychiatric illness that would interfere in completing assessments.
2. Participant is pregnant.
3. Local MRI and lumbar puncture contraindications. |