The aim of the study is to identify genes that cause early onset Alzheimer dementia, dementia with Lewy bodies and frontotemporal dementia.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Neurological disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
identifying genes causing frontotemporal dementia, dementia with Lewy bodies
and early onset Alzheimer dementia
Secondary outcome
n/a
Background summary
Alzheimer disease (AD) and frontotemporal dementia (FTD) are the most common
forms of presenile dementia (onset < 65 yrs). For both dementia types, 10 to 15
percent has a hereditary form with autosomal dominant mode of inheritance.
Although some genes are known to cause autosomal dominant dementia, in several
families with hereditary AD and FTD a causal gene defect has still to be found.
Although dementia with Lewy bodies is in most cases sporadic, some patients
have an autosomal dominant family history. No genes have been identified for
autosomal dominant DLB. This suggests that more genes are involved in autosomal
dominant dementia than we currently know of. The knowledge of other genes
involved may expand the possibilities of genetic counselling and might
contribute to the understanding of dementia.
Study objective
The aim of the study is to identify genes that cause early onset Alzheimer
dementia, dementia with Lewy bodies and frontotemporal dementia.
Study design
Family based study:
An extensive family history will be taken. If the family is eligible for this
study, all affected persons and all 1st degree (presumed) unaffected relatives
will be asked to participate. (Representatives of) affected participants will
be asked for permission to request for their medical records. In unaffected
participants, an medical history will be taken and, if applicable, permission
to request for their medical records will be asked. Partners and children or
other first-degree relatives of an presumed unaffected participant will be
asked questions about the participant to confirm the unaffected state. DNA of
all participants will be collected. Genetic anaylsis will take place at the
section Medical Genomics by linkage or exome sequencing. Participants will not
be informed on the results of questionnaires or of the outcome of the genetic
analysis in their family.
Study burden and risks
The risks of participating in this study are negligible and the burden is
minimal. Participants will be asked question about themselves and their
relatives by phone, and will be requested to have blood drawn once. A visit at
our hospital is not necessary, no physical examination will take place.
Personal results will not be communicated to the participants.
De Boelelaan 1117
1081 HV Amsterdam
NL
De Boelelaan 1117
1081 HV Amsterdam
NL
Listed location countries
Age
Inclusion criteria
1.Families with (probable) autosomal dominant inheritance of frontotemporal dementia, dementia with Lewy bodies or early onset Alzheimer dementia.
- Families fitting autosomal dominant inheritance:
o Frontotemporal dementia or dementia with Lewy bodies in at least three persons in two consecutive generations, or
o Alzheimer dementia in at least three persons in two consecutive generations all with an onset below the age of 65 years.
- Families suggestive of autosomal dominant inheritance:
o Frontotemporal dementia or dementia with Lewy bodies in at least two persons, or
o Alzheimer dementia in at least three persons, 1st or 2nd degree related to each other, of whom at least one has an onset below the age of 65 years, or
o Alzheimer dementia in at least two persons, 1st or 2nd degree related to each other, with both an onset below the age of 65 years.;2. A sufficient understanding of the Dutch language and cognitive abilities to understand questions and procedures of participants or their (legal) representatives
Exclusion criteria
* Families in which a causal mutation has been identified
* Families that are known to be unwilling to participate in research
* Families in which no DNA of any affected person is or will be available
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL36113.029.11 |