Four people with SOD1 D91A ALS first developed progressive ataxia
Original source
Cerebellar ataxia-onset ALS with SOD1 D91A mutation: a rare phenotype. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Study type
- Case report
- Studied in
- Human
Related topics
A case series described four people with the SOD1 D91A mutation whose first and predominant symptom was progressive gait ataxia. Upper and lower motor neuron signs appeared months to years later, and all eventually met criteria for amyotrophic lateral sclerosis (ALS).
Why this matters
The report suggests that clinicians may need to consider SOD1 genetic testing in adults with unexplained, progressive ataxia, especially when motor neuron signs later emerge. This case series does not show that testing or SOD1-targeted therapies improve outcomes, so it does not by itself change treatment.
Limitations and context
This was a small case series of four unrelated patients, based on reviews of clinical, imaging, electrophysiological and genetic data. It describes an uncommon presentation and does not test a treatment or establish how frequently this pattern occurs. The findings come from one primary research report and need confirmation in larger studies.