Genetic testing in dementia-A medical genetics perspective

Aamira J. Huq, Adrienne Sexton, Paul Lacaze, Colin L. Masters, Elsdon Storey, Dennis Velakoulis, Paul A. James, Ingrid M. Winship

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)


Objective: When a genetic cause is suspected in a person with dementia, it creates unique diagnostic and management challenges to the treating clinician. Many clinicians may be unaware of the practicalities surrounding genetic testing for their patients, such as when to test and what tests to use and how to counsel patients and their families. This review was conducted to provide guidance to clinicians caring for patients with dementia regarding clinically relevant genetics. Methods: We searched PubMed for studies that involved genetics of dementia up to March 2020. Patient file reviews were also conducted to create composite cases. Results: In addition to families where a strong Mendelian pattern of family history is seen, people with younger age of onset, especially before the age of 65 years were found to be at an increased risk of harbouring a genetic cause for their dementia. This review discusses some of the most common genetic syndromes, including Alzheimer disease, frontotemporal dementia, vascular dementia, Parkinson disease dementia/dementia with Lewy bodies and some rarer types of genetic dementias, along with illustrative clinical case studies. This is followed by a brief review of the current genetic technologies and a discussion on the unique genetic counselling issues in dementia. Conclusions: Inclusion of genetic testing in the diagnostic pathway in some patients with dementia could potentially reduce the time taken to diagnose the cause of their dementia. Although a definite advantage as an addition to the diagnostic repository, genetic testing has many pros and cons which need to be carefully considered first.

Original languageEnglish
Pages (from-to)1158-1170
Number of pages13
JournalInternational Journal of Geriatric Psychiatry
Issue number8
Publication statusPublished - Aug 2021


  • clinical genetics
  • dementia genetics
  • early onset dementia
  • genetic counselling in dementia
  • next generation sequencing

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