Huntingtin expansions were found in a small number of patients with FTD or ALS syndromes
Original source
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Related topics
Pathogenic expansions in the huntingtin gene were found in three of 2,442 patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS) syndromes. They were not found in the comparison groups and the finding was replicated in an independent group of 3,674 FTD/ALS patients. Two patients whose brains were examined had ALS/FTD-type TDP-43 pathology but no characteristic Huntington’s disease striatal atrophy.
Why this matters
The findings suggest that huntingtin repeat expansions may rarely contribute to FTD/ALS syndromes. Genetic testing for these expansions could be considered in some people with FTD/ALS, but this study does not change treatment and does not show that testing benefits patients.
Limitations and context
This was a genetic analysis rather than a treatment study. The expansion was rare, and postmortem findings were available for only two patients. The results concern combined FTD/ALS syndromes and do not establish how often huntingtin expansions occur in ALS alone or how they affect prognosis.