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

Goldfarb, L. G., Brown, P., Vrbovska, A., Baron, H., McCombie, W. R., Cathala, F., Gibbs Jr, C. J., Gajdusek, D. C. (1992) An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Straussler-Scheinker family. Journal of the Neurological Sciences, 111 (2). pp. 189-194. ISSN 0022510X (ISSN)

URL: http://www.ncbi.nlm.nih.gov/pubmed/1431985
DOI: 10.1016/0022-510x(92)90067-u

Abstract

We report the finding of an insert mutation in the chromosome 20 amyloid precursor gene in a family with neuropathologically-verified, experimentally-transmitted Gerstmann-Straussler-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 sequencing of the open reading frame, and was visualized electrophoretically in the proband and 6 of 12 at-risk relatives. Although affected members in this French-Breton family have shown a variety of clinical profiles, including durations of illness that ranged from 3 months to 13 years, all autopsied cases (including the patient with the shortest illness) have had the distinctive multicentric amyloid plaques that define GSS as a nosologic entity.

Item Type: Paper
Uncontrolled Keywords: Creutzfeldt-Jakob disease Gerstmann-Straussler-Scheinker syndrome insert mutation prion PRNP amyloid precursor gene spongiform encephalopathy amyloid precursor protein adult article brain spongiosis chromosome 20 clinical article controlled study creutzfeldt jakob disease female gene expression gerstmann syndrome human human tissue male priority journal Amino Acid Sequence Amyloid beta-Protein Precursor Animal Base Sequence Brain Tissue Transplantation Case Report Chromosomes, Human, Pair 20 Codon Gerstmann-Straussler-Scheinker Disease Haplorhini Middle Age Molecular Sequence Data Mutation Pan troglodytes Pedigree Transplantation, Heterologous
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosome
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosomes, structure and function > chromosome

bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosomes, structure and function
diseases & disorders > mental disorders > genetic disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations
CSHL Authors:
Communities: CSHL labs > McCombie lab
Depositing User: Matt Covey
Date Deposited: 25 Apr 2013 14:19
Last Modified: 25 Apr 2013 14:19
Related URLs:
URI: http://repository.cshl.edu/id/eprint/28230

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