[DNA diagnostics in dementia].
Ned Tijdschr Geneeskd. 2017;161(0):D1774
Authors: Aalfs CM, Vervenne-van Spaendonk R, Pijnenburg YAL, Cohn-Hokke PE, Meijers HJ, Scheltens P
– Thanks to next-generation sequencing several genes can be examined in one go. Since this method has been introduced, the possibilities for DNA diagnostics in patients with dementia have increased tremendously in recent years.- DNA diagnostics is indicated for patients with an Alzheimer’s disease diagnosis before they are 60 years old, for all patients with frontotemporal dementia and for patients with a positive family history.- For 15% of the patients who visited the Alzheimer centre of the VUmc, in Amsterdam, the Netherlands DNA diagnostics indicated a clear monogenic cause.- Although a hereditary cause of dementia is often a hard message for patients and their families, this knowledge often provides them with more clarity with respect to the diagnosis and the course of the disease. In addition, family members may choose to carry out presymptomatic DNA testing.- The therapeutical consequences of DNA diagnostics are currently minimal; several studies are being carried out internationally in this area.
PMID: 28936933 [PubMed – indexed for MEDLINE]