Literature DB >> 1348851

Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.

H A Kretzschmar1, P Kufer, G Riethmüller, S DeArmond, S B Prusiner, D Schiffer.   

Abstract

We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.

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Year:  1992        PMID： 1348851     DOI： 10.1212/wnl.42.4.809

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  6 in total

Review 1.  Prions, beta-sheets and transmissible dementias: is there still something missing?

Authors:  P P Liberski
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

2.  Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins.

Authors:  Emmanuel A Asante; Ian Gowland; Andrew Grimshaw; Jacqueline M Linehan; Michelle Smidak; Richard Houghton; Olufunmilayo Osiguwa; Andrew Tomlinson; Susan Joiner; Sebastian Brandner; Jonathan D F Wadsworth; John Collinge
Journal:  J Gen Virol       Date:  2009-03       Impact factor: 3.891

Review 3.  Spontaneous generation of infectious nucleating amyloids in the transmissible and nontransmissible cerebral amyloidoses.

Authors:  D C Gajdusek
Journal:  Mol Neurobiol       Date:  1994-02       Impact factor: 5.590

Review 4.  Prion protein scrapie and the normal cellular prion protein.

Authors:  Caroline J Atkinson; Kai Zhang; Alan L Munn; Adrian Wiegmans; Ming Q Wei
Journal:  Prion       Date:  2016       Impact factor: 3.931

5.  Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS.

Authors:  Emmanuel A Asante; Andrew Grimshaw; Michelle Smidak; Tatiana Jakubcova; Andrew Tomlinson; Asif Jeelani; Shyma Hamdan; Caroline Powell; Susan Joiner; Jacqueline M Linehan; Sebastian Brandner; Jonathan D F Wadsworth; John Collinge
Journal:  PLoS Pathog       Date:  2015-07-02       Impact factor: 6.823

Review 6.  Prions and related neurological diseases.

Authors:  M Pocchiari
Journal:  Mol Aspects Med       Date:  1994
  6 in total

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