SIGMAR1 variants linked to a slowly progressing inherited motor neuropathy, not ALS
Original source
Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series. (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.
A Japanese case series identified biallelic SIGMAR1 gene variants in six people from five unrelated families with early-onset distal hereditary motor neuropathy. The participants had distal muscle weakness and atrophy, often with pyramidal signs, but no bulbar or respiratory involvement. Their disease progressed slowly, and all remained able to walk for years to decades after symptoms began.
Why this matters
The findings support distinguishing SIGMAR1-associated disease from amyotrophic lateral sclerosis (ALS), despite some clinical overlap. They also suggest that SIGMAR1 testing may be relevant when evaluating early-onset inherited motor neuropathy, especially when pyramidal features are present. This study does not show that a treatment is effective or change current treatment.
Limitations and context
This was a small case series involving six patients from Japan and five families. The findings describe clinical and genetic features but do not establish treatment effects or how common these variants are more broadly.