Introduction of genetic-assisted dementia diagnosis

A new panel of genetic assessment helps to diagnose and guide therapy for dementia patients, as it was introduced for 3241 individuals with 13,152 classified genetic variants.

2784 patient group consisted of 1052 with Alzheimer disease, 794 with frontotemporal dementia syndrome, 639 without specific diagnose, 299 with prion disease. There were also 457 healthy elderly individuals as a control group.

All involved individuals underwent analysis of genes: APOE, PRNP, MAPT, TREM2, TYROBP, VCP, APP, CHMP2B, MAPT, PSEN1, PSEN2, TARDBP, CSF1R, C9orf72, FUS, NOTCH3, GRN, SQSTM1, ITM2B. These are known to have variants influencing dementia diseases. Specifically, Alzheimer disease was associated with APP, PSEN1, and PSEN2 (63% of patients); frontotemporal dementia syndrome with C9orf72, GRN, MAPT (93,5% of patients); and prion disease obviously with the gene PRNP (94% of patients).

A 10%+ likelihood of variant detection was found in patients with early onset of a disease (under 60) and known disease history within a family. In cases with suspected prion disease but normal PRNP gene or without specific diagnose, the genetic panel is recommended to clarify the cause of a disease.

More: “Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series”, C. Koriath et al., 2018, doi:10.1038/s41380-018-0224-0.