[Genetics of frontotemporal dementia]

Tijdschr Psychiatr. 2022;64(5):306-311.
[Article in Dutch]

Abstract

<span class="CharOverride-11"> Frontotemporal dementia (FTD) is a neurodegenerative disorder leading to dementia. Because of predominant behavioural and emotional features it often presents to the psychiatrist.</span> AIM: <span class="CharOverride-11"> Provide an overview of the genetic background of FTD with recommendations for the clinician.</span> METHOD: <span class="CharOverride-11"> Review of the international literature.</span> RESULTS: <span class="CharOverride-11"> 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.</span> CONCLUSION: <span class="CharOverride-11"> 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 <br />nega</span>tive.

MeSH terms

  • Amyotrophic Lateral Sclerosis* / genetics
  • C9orf72 Protein / genetics
  • DNA Repeat Expansion
  • Frontotemporal Dementia* / genetics
  • Humans
  • Mutation
  • Proteins / genetics

Substances

  • C9orf72 Protein
  • Proteins