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Gerstmann-Sträussler-Scheinker Disease

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Neurodegenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 724))

Abstract

Gerstmann-Sträussler-Scheinker (GSS) is a slowly progressive hereditary autosomal dominant disease (OMIM: 137440) and the first human transmissible spongiform encephalopathy (TSE) in which a mutation in a gene encoding for prion protein (PrP) was discovered. The first “H” family had been known by the Viennese neuropsychiatrists since the XXth century and was reported by Gerstmann, Sträussler and Scheinker in 1936. In this chapter we present the clinical, neuropathological and molecular data on GSS with the mutations in the PRNP gene: at codons 102, 105, 117, 131, 145, 187, 198, 202, 212, 217 and 232. In several families with GSS the responsible mutations are unknown.

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  1. Department of Molecular Pathology and Neuropathology, Medical University Lodz, Lodz, Poland

    Paweł P. Liberski

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  1. School of Science and Technology, Nottingham Trent University, Nottingham, UK

    Shamim I. Ahmad BSc, MSc, PhD

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Liberski, P.P. (2012). Gerstmann-Sträussler-Scheinker Disease. In: Ahmad, S.I. (eds) Neurodegenerative Diseases. Advances in Experimental Medicine and Biology, vol 724. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-0653-2_10

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