Genetica van frontotemporale dementie

Translated title of the contribution: Genetics of frontotemporal dementia

Research output: Contribution to journalReview articleProfessional


Background Frontotemporal dementia (FTD) is a neurodegenerative disorder leading to dementia. Because of predominant behavioural and emotional features it often presents to the psychiatrist. Aim Provide an overview of the genetic background of FTD with recommendations for the clinician. Method Review of the international literature. Results FTD is autosomal dominant hereditary in 10-25% of cases. The clinical presentation of genetic FTD is heterogeneous. In particular, the C9ORF72 mutation can manifest as a psychiatric disorder and its disease course can be slow. This mutation is also associated with ALS. Conclusion In case of a late-onset psychiatric disorder it is recommended to perform a detailed family history, including dementia, ALS and psychiatric disorders. In case of an undetermined neuropsychiatric disorder one should consider genetic testing at least including the C9ORF72 hexanucleotide repeat length, even when the family history is negative.
Translated title of the contributionGenetics of frontotemporal dementia
Original languageDutch
Pages (from-to)306-311
Number of pages6
JournalTijdschrift voor Psychiatrie
Issue number5
Publication statusPublished - 10 May 2022

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