Gerstmann–Sträussler–Scheinker syndrome
| Gerstmann–Sträussler–Scheinker syndrome | |
|---|---|
| A person with inherited prion disease has cerebellar atrophy. This is quite typical of GSS. | |
| Specialty | Neurology |
| Symptoms | difficulty speaking, developing dementia, memory loss, vision loss |
| Causes | Prions |
| Treatment | None |
| Medication | None |
| Prognosis | Universally fatal, life expectancy is typically 5-6 years from diagnosis |
| Frequency | 1-10 of every 100 million people |
Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, invariably fatal neurodegenerative disease that usually affects patients from 35 to 55 years in age. It is exclusively heritable, and is found in only a few families around the world.[1] GSS is classified with the transmissible spongiform encephalopathies (TSE) due to the causative role played by PRNP, the human prion protein.[2] It was first reported by the Austrian physicians Josef Gerstmann, Ernst Sträussler and Ilya Scheinker in 1936.[3][4]
Familial cases are associated with autosomal-dominant inheritance.[5]
Certain symptoms are common to GSS, such as progressive ataxia, pyramidal signs, and dementia; they worsen as the disease progresses.[6]
- ^ Cite error: The named reference
:0was invoked but never defined (see the help page). - ^ Liberski PP (2012). "Gerstmann-Sträussler-Scheinker Disease". Neurodegenerative Diseases. Advances in Experimental Medicine and Biology. Vol. 724. pp. 128–37. doi:10.1007/978-1-4614-0653-2_10. ISBN 978-1-4614-0652-5. PMID 22411239.
- ^ synd/2269 at Whonamedit?
- ^ Gerstmann J, Sträussler E, Scheinker I (1936). "Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns". Zeitschrift für die gesamte Neurologie und Psychiatrie. 154: 736–762. doi:10.1007/bf02865827. S2CID 86904496.
- ^ De Michele G, Pocchiari M, Petraroli R, Manfredi M, Caneve G, Coppola G, et al. (August 2003). "Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family". The Canadian Journal of Neurological Sciences. 30 (3): 233–6. doi:10.1017/S0317167100002651. PMID 12945948.
- ^ Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B (November 1989). "Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum". Neurology. 39 (11): 1446–52. doi:10.1212/wnl.39.11.1446. PMID 2812321. S2CID 23716392.