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Gerstmann-Straussler-Scheinker Syndrome (GSS)
Related Subjects: |Dementias |Gerstmann-Straussler-Scheinker Syndrome (GSS) |Fatal Familial Insomnia (FFI) |Creutzfeldt Jakob disease (CJD) |Variant Creutzfeldt Jakob disease (vCJD) |Kuru
🧠 Gerstmann–Sträussler–Scheinker Syndrome (GSS) is a very rare inherited prion disease. It is classified as a transmissible spongiform encephalopathy (TSE), producing a sponge-like appearance of the brain due to neuronal loss and vacuolation. ⚠️ Do not confuse with Gerstmann syndrome (a different cortical syndrome).
📌 About
- Extremely rare prion disease (<1 in 10 million worldwide).
- Belongs to the family of transmissible spongiform encephalopathies (TSEs) alongside CJD and Fatal Familial Insomnia.
- Always inherited – reported in only a few families globally.
🧬 Aetiology
- Autosomal dominant inheritance.
- Caused by mutations in the PRNP gene encoding prion protein.
- Mutated prion protein misfolds into PrPSc, which accumulates in brain tissue causing neurodegeneration.
🩺 Clinical Features
- Onset: typically 35–55 years.
- 🎤 Dysarthria and cerebellar ataxia are often early features.
- Wide-based gait, truncal instability, recurrent falls.
- Nystagmus and spasticity.
- Gradual cognitive impairment → dementia.
- Late features: blindness, deafness, painful sensory phenomena (hyperpathia / burning pain).
🔎 Investigations
- EEG: Usually non-specific (unlike CJD which may show PSWCs).
- MRI/CT: Cerebellar atrophy most consistent finding.
- Genetic testing: Definitive – identifies PRNP mutation.
💊 Management
- No curative therapy – prognosis poor, survival 2–10 years after onset.
- Supportive management: physiotherapy, speech therapy, aids for mobility.
- Palliative care for progressive disability, aspiration pneumonia, coma.
📚 References
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