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Article

Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome.

Neurology - 1 Mar 1991

Brown P, Goldfarb L G, Brown W T, Goldgaber D, Rubenstein R, Kascsak R J, Guiroy D C, Piccardo P, Boellaard J W, Gajdusek D C

Abstract excerpt

We have verified, by full open reading frame sequencing, the presence of an amino-acid-altering mutation in codon 102 of the scrapie amyloid protein gene in three affected members of a large and well-documented German family with experimentally transmitted Gerstmann-Sträussler-Scheinker syndrome. In addition, we identified the mutation by partial sequencing or DNA restriction enzyme analysis in three of 12...

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PMID: 1672447
DOI: 10.1212/wnl.41.3.375

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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