To the Editor: Loi and colleagues1 recently published a comprehensive review on young‐onset dementia (YOD). The review discussed genomic diagnostics, which has an increasing role to play in dementia care. Genetic diagnosis will lead to better outcomes for patients and their families, with greatest benefits for families found to have known pathogenic mutations in established monogenic causes of dementia.
- 1. Loi SM, Cations M, Velakoulis D. Young‐onset dementia diagnosis, management and care: a narrative review. Med J Aust 2023; 218: 182‐189. https://www.mja.com.au/journal/2023/218/4/young‐onset‐dementia‐diagnosis‐management‐and‐care‐narrative‐review
- 2. Bennett MF, Tucci A, Bahlo M. Detecting tandem repeat expansions using short‐read sequencing for clinical use. In: Proukakis C; editor. Genomic structural variants in nervous system disorders. New York (NY): Springer US, 2022; pp. 15‐42.
- 3. Ibañez K, Polke J, Hagelstrom RT, et al. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurol 2022; 21: 234‐245.
- 4. Henden L, Fearnley LG, Grima N, et al. Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Sci Adv 2023; 9: eade2044.
- 5. Rosenbohm A, Pott H, Thomsen M, et al. Familial cerebellar ataxia and amyotrophic lateral sclerosis/frontotemporal dementia with DAB1 and C9orf72 repeat expansions: an 18‐year study. Mov Disord 2022; 37: 2427‐2439.
Publication of your online response is subject to the Medical Journal of Australia's editorial discretion. You will be notified by email within five working days should your response be accepted.