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Article

An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family.

Journal of the neurological sciences - 1 Sept 1992

Goldfarb L G, Brown P, Vrbovská A, Baron H, McCombie W R, Cathala F, Gibbs C J, Gajdusek D C

Abstract excerpt

We report the finding of an insert mutation in the chromosome 20 amyloid precursor gene in a family with neuropathologically-verified, experimentally-transmitted Gerstmann-Sträussler-Scheinker syndrome (GSS). The insert consisted of 8 extra copies of a repeating octapeptide coding sequence in the region between codons 51 and 91; it was identified in the proband and a presently unaffected at-risk niece by full...

Topics

Adult
Amino Acid Sequence
Amyloid beta-Protein Precursor
Animals
Base Sequence
Brain Tissue Transplantation
Chromosomes, Human, Pair 20
Codon
Female
Gerstmann-Straussler-Scheinker Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haplorhini

Humans

Male

Middle Aged

Molecular Sequence Data

Mutation

Pan troglodytes

Pedigree

Source

Identifiers

PMID: 1431985
DOI: 10.1016/0022-510x(92)90067-u

Genes

GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1431985-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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