A Chinese study found rare genetic variants in sporadic Alzheimer’s disease and frontotemporal lobar degeneration
Original source
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Whole-exome sequencing of 103 Chinese participants identified pathogenic or likely pathogenic variants in genes including TARDBP, MAPT, PSEN1 and ANXA11. The study also found variants of uncertain significance and rare variants in several dementia risk genes. No C9orf72 expansions were detected in the frontotemporal lobar degeneration group.
Why this matters
The findings add to evidence of genetic overlap across neurodegenerative diseases, including a TARDBP variant also relevant to motor neuron disease research. However, the study did not involve people with amyotrophic lateral sclerosis or motor neuron disease, and it does not change treatment or establish disease risk for individuals.
Limitations and context
This was a small observational genetic study of 74 people with sporadic Alzheimer’s disease and 29 with sporadic frontotemporal lobar degeneration in China. The clinical significance of variants of uncertain significance and several rare variants remains unclear. The findings need confirmation in larger and more diverse populations.