ArticleAnnals of clinical and translational neurology2023
C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.
Article in Annals of clinical and translational neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Mapping the Young-Onset Dementia Research in the Asia-Pacific Region: A Scoping Review.Asia-Pacific psychiatry : official journal of the Pacific Rim College of Psychiatrists · 2026Article
- Article
- Genomic and Transcriptomic Approaches Advance the Diagnosis and Prognosis of Neurodegenerative Diseases.Genes · 2025Review
- Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Increased frequency of repeat expansion mutations across different populations.Nature medicine · 2024Article
- Biomarkers of neurodegeneration across the Global South.The lancet. Healthy longevity · 2024Review
- A scoping review of the unique landscape and challenges associated with dementia in the Western Pacific region.The Lancet regional health. Western Pacific · 2024Article
- Increased frequency of repeat expansion mutations across different populations.medRxiv : the preprint server for health sciences · 2024Article
- Frontotemporal lobar degeneration therapeutic development pipeline: 2026.Alzheimer's & dementia (New York, N. Y.)Review
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFrontotemporal dementia (FTD) encompasses a spectrum of neurodegenerative disorders, including behavioural variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA) and non-fluent variant PPA (nfvPPA). While a strong genetic component is implicated in FTD, genetic FTD in Asia is less frequently reported. We aimed to investigate the frequency of Southeast Asian FTD patients harbouring known genetic FTD variants.
methodsA total of 60 FTD-spectrum patients (25 familial and 35 sporadic) from Singapore and the Philippines were included. All underwent next-generation sequencing and repeat-primed PCR for C9orf72 expansion testing. Neurofilament light chain (NfL) levels were measured in a subset of patients.
resultsOverall, 26.6% (16/60 cases) carried pathogenic or likely pathogenic variants in a FTD-related gene, including: MAPT Gln351Arg (n = 1); GRN Cys92Ter (n = 1), Ser301Ter (n = 2), c.462 + 1G > C (n = 1); C9orf72 expansion (35-70 repeats; n = 8); TREM2 Arg47Cys (n = 1); and OPTN frameshift insertion (n = 2). Genetic mutations accounted for 48% (12/25) of patients with familial FTD, and 11.4% (4/35) of patients with sporadic FTD. C9orf72 repeat expansions were the most common genetic mutation (13.3%, 8/60), followed by GRN (6.7%, 4/60) variants. Within mutation carriers, plasma NfL was highest in a C9orf72 expansion carrier, and CSF NfL was highest in a GRN splice variant carrier.
interpretationIn our cohort, genetic mutations are present in one-quarter of FTD-spectrum cases, and up to half of those with family history. Our findings highlight the importance of wider implementation of genetic testing in FTD patients from Southeast Asia.
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