Early onset dementia (encompassing fronto-temporal dementia and prion disease)

« Back to Disease List

Inclusion Criteria

  • Progressive cognitive deterioration with change in memory, vision, behaviour or language with functional impairment
  • Age at onset <50 years OR
  • Later onset with family history of dementia of the same type in a 1st or 2nd degree relative

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion Criteria

  •  Identified underlying cause, e.g. structural brain lesion. NB in uncertain cases with anxiety/depression brain atrophy on imaging, CSF findings or EEG abnormalities should be available to support the diagnosis of a primary degenerative syndrome

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  •  Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • Clinical syndrome Alzheimer disease: PSEN1, APP
  • Clinical syndrome FTLD: MAPT, C9ORF72, GRN
  •  Clinical syndrome Prion disease: PRNP

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change

« Back to Disease List