Gerstmann Sträussler Scheinker (GSS) syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Gerstmann Sträussler Scheinker (GSS) syndrome. This is caused by mutations of the Variant prion protein (PRNP) gene on chromosome 20.
Genetics
- This is caused by mutations of the Variant prion protein (PRNP) gene on chromosome 20
- The transmission is autosomal dominant
Epidemiological features
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Neurological features
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Differential diagnosis
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Pathological features
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Magnetic resonance imaging (MRI) brain: features
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Other investigations
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References
- Tateishi J, Kitamoto T, Doh-ura K, et al. Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome. Neurology 1990; 40:1578-1581.
- Tranchant C, Sergeant N, Wattez A, Mohr M, Warter JM, Delacourte A. Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation. JNNP 1997; 63:240-246.
- Park MJ, Jo HY, Cheon SM, Choi SS, Kim YS, Kim JW. A case of Gerstmann-Sträussler-Scheinker disease. J Clin Neurol. 2010; 6:46-50.
- Brown K, Mastrianni JA. The prion diseases. J Geriatr Psychiatry Neurol 2010; 23:277-298.
- Stephen CD, de Gusmao CM, Srinivaan SR, et al. Gerstmann-Sträussler-Scheinker disease presenting as late-onset slowly progressive spinocerebellar ataxia, and comparative case series with neuropathology. Mov Disord Clin Pract 2024 (Online ahead of print).
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