A Lithuanian study found pathogenic genetic variants in 15.7% of patients with motor neuron disease
Original source
Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
A retrospective study of 53 patients at one Lithuanian clinic found pathogenic or likely pathogenic genetic variants in 8 of 51 tested patients. C9orf72 repeat expansions were the most common finding, followed by variants in SOD1, NEK1 and FUS.
Why this matters
The findings add data from Lithuania and support considering systematic genetic testing for people with motor neuron disease. The study does not show that testing changes treatment or outcomes.
Limitations and context
This was a retrospective, single-center study with 53 patients, and genetic results were available for 51. There was no control group, and formal comparisons with other populations were not performed. The findings may not represent all people with motor neuron disease in Lithuania or elsewhere.