Young-onset dementia diagnosis, management and care

Samantha M. Loi, Monica Cations, Dennis Velakoulis

Research output: Contribution to journalLetterpeer-review

1 Citation (Scopus)


In reply: We thank Bahlo for the response to our narrative review and agree that the developments in whole genome sequencing (WGS) justify increased use of this technique in determining genetic abnormalities in young-onset dementia. The C9orf72 repeat expansion is the most important genetic cause of frontotemporal dementia.

Although WGS is accredited for clinical use in many neurogenetic disorders, it is yet to be accredited by the National Association of Testing Authorities (NATA) for repeat disorders...
Original languageEnglish
Pages (from-to)90
Number of pages1
JournalMedical Journal of Australia
Issue number2
Early online date3 Jun 2023
Publication statusPublished - Jul 2023


  • Dementia
  • Genetic counselling
  • Genetic testing


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