A case report describes coexisting PRNP and GRN variants in Gerstmann-Sträussler-Scheinker syndrome
Original source
Gerstmann-Sträussler-Scheinker syndrome with unexpected concomitant GRN variant: case report. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Study type
- Case report
- Studied in
- Human
Population inferred from the title and abstract by Compass.
Related topics
A patient with Gerstmann-Sträussler-Scheinker syndrome had a pathogenic PRNP P102L variant and a second pathogenic GRN p.R110X variant. The patient developed slowly progressive sensory, coordination, speech, cognitive and behavioural symptoms, and died four years after symptom onset. Autopsy confirmed Gerstmann-Sträussler-Scheinker syndrome but found no detectable TDP-43 pathology.
Why this matters
The report highlights that genetic findings may not determine the clinical features seen in an individual case. It may be relevant to clinicians evaluating atypical neurodegenerative disease, but it does not establish a treatment or diagnostic change for people with amyotrophic lateral sclerosis or motor neurone disease.
Limitations and context
This is a single case report, not a treatment study or population-level analysis. The proposed effects of the GRN and TMEM106B variants are hypotheses from one patient and require confirmation in larger studies. The report concerns Gerstmann-Sträussler-Scheinker syndrome rather than ALS or MND.