Genetic FTD study: motor symptoms, not the gene itself, shape survival
- Study published
- Added to this website
The GENFI consortium followed 278 people with frontotemporal dementia (FTD) caused by a change in one of three genes: C9orf72, GRN or MAPT. The C9orf72 repeat expansion is also the most common known genetic cause of ALS, and 31 participants had both FTD and ALS.
Median survival from first symptoms was about 7 years overall and 7.04 years for C9orf72 carriers. Older age at onset, a combined FTD-ALS presentation, motor or language symptoms first, and living in central or southern Europe were linked to shorter survival.
The gene itself did not directly change survival; its effect ran through age at onset and the type of illness. The authors built a risk index that they say needs further testing.
What this does not show
This was a retrospective study of people who mainly had FTD. Figures for people whose illness is mainly ALS may differ, and the risk index has not yet been validated prospectively.
Source
Survival estimates and their predictors in genetic frontotemporal dementia: an international, retrospective, cohort study
This summary explains a single study. It is not medical advice and does not say what applies to any one person. Talk to your ALS care team before making decisions about treatment or trials.