Frontotemporal dementia
Conditions
Interventions
None listed
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: The participant must be 18 years old or older. • The participant must be a member of a family with a known pathogenic mutation in any of the genes causing FTD.An affected member is one who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum. o An at-risk member is one who is a first-degree relative of a family member affected with the disease. o Pathogenicity of a mutation is defined by those included within the GENF Ilist of FTD mutations. If a novel mutation is discovered that is likely to be pathogenic and has not yet been included within the FTD mutation database then the GENFI Genetics Core will decide on inclusion. Please send an email to the GENFI Trials Team at genfi@ucl.ac.uk. o A pathogenic C9orf72 expansion is defined as greater than 30 repeats. Intermediate expansions are not considered pathogenic. o Participants from one of the small number of families around the world in which 2 (or more) pathogenic mutations have been found should not be included in GENFI. • If the participant is demented or cognitively impaired there must be an available caregiver that can escort them. • The participant must have an identified informant. • The participant must be fluent in the language of their country of assessment.
Exclusion criteria
Exclusion criteria: Participants from one of the small number of families around the world in which 2 (or more) pathogenic mutations have been found. Participants with another medical or psychiatric illness that would interfere in completing assessments; participant is pregnant.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| -cognitive functioning as objectified by MMSE and neuropsychological examination. -concentration of neurofilament light as determined in cerebrospinal fluid | — |
Countries
Netherlands
Outcome results
None listed