A FUS gene variant was linked to tremor and movement symptoms in a young adult with motor neuron disease
Original source
A de novo FUS frameshift variant (p.Gly501Valfs*30) presenting with tremor and prominent extrapyramidal features in young-onset motor neuron disease: a case report. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Population inferred from the title and abstract by Compass.
Related topics
A 32-year-old man with motor neuron disease first developed tremor in both hands, followed by speech and movement problems. Genetic testing found a new FUS gene variant that was absent in both parents. After about 2.5 years, he remained able to walk with a frame, suggesting a milder course than previously reported for a variant at the same location.
Why this matters
The case suggests that tremor and extrapyramidal movement features can be early signs of FUS-associated motor neuron disease in adults. It may help clinicians recognise an unusual presentation and consider genetic testing. This is a report of one person and does not change treatment recommendations.
Limitations and context
This is a single case report, not a clinical trial or evidence that a treatment is effective. The findings may not apply to other people with FUS variants or motor neuron disease. More cases would be needed to understand how this variant affects symptoms and disease progression.