Volume 45, Issue 6 pp. 812-816

Brief Communication

A novel phenotype in familial Creutzfeldt-Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein

Johannes A. Hainfellner MD,

Johannes A. Hainfellner MD

Institute of Neurology, University of Vienna the Austrian Reference Center for Human Prion Diseases, Vienna, Austria

Search for more papers by this author

Piero Parchi MD,

Piero Parchi MD

Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, OH

Search for more papers by this author

Tetsuyuki Kitamoto MD,

Tetsuyuki Kitamoto MD

Department of Neurological Science, Tohoku University, Sendai, Japan

Search for more papers by this author

Christa Jarius MD,

Christa Jarius MD

Institute of Neurology, University of Vienna the Austrian Reference Center for Human Prion Diseases, Vienna, Austria

Search for more papers by this author

Pierluigi Gambetti MD,

Pierluigi Gambetti MD

Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, OH

Search for more papers by this author

Herbert Budka MD,

Corresponding Author

Herbert Budka MD

Institute of Neurology, University of Vienna the Austrian Reference Center for Human Prion Diseases, Vienna, Austria

Institute of Neurology, AKH, Währinger Gürtel 18-20, POB 48, A-1097 Vienna, AustriaSearch for more papers by this author

Johannes A. Hainfellner MD,

Johannes A. Hainfellner MD

Institute of Neurology, University of Vienna the Austrian Reference Center for Human Prion Diseases, Vienna, Austria

Search for more papers by this author

Piero Parchi MD,

Piero Parchi MD

Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, OH

Search for more papers by this author

Tetsuyuki Kitamoto MD,

Tetsuyuki Kitamoto MD

Department of Neurological Science, Tohoku University, Sendai, Japan

Search for more papers by this author

Christa Jarius MD,

Christa Jarius MD

Institute of Neurology, University of Vienna the Austrian Reference Center for Human Prion Diseases, Vienna, Austria

Search for more papers by this author

Pierluigi Gambetti MD,

Pierluigi Gambetti MD

Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, OH

Search for more papers by this author

Herbert Budka MD,

Corresponding Author

Herbert Budka MD

Institute of Neurology, University of Vienna the Austrian Reference Center for Human Prion Diseases, Vienna, Austria

Institute of Neurology, AKH, Währinger Gürtel 18-20, POB 48, A-1097 Vienna, AustriaSearch for more papers by this author

First published: 01 June 2001

https://doi.org/10.1002/1531-8249(199906)45:6<812::AID-ANA20>3.0.CO;2-2

Citations: 46

About

PDF

Tools

Share a link

Email
Wechat
Bluesky

Abstract

A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP^res). This observation further underlines the role of codon 129 on the mutated PRNP allele in modulating the phenotype of familial prion diseases. Ann Neurol 1999;45:812–816

References

1 Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992; 258: 806–808
10.1126/science.1439789
CAS PubMed Web of Science® Google Scholar
2 Monari L, Chen SG, Brown P, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci USA 1994; 91: 2839–2842
10.1073/pnas.91.7.2839
CAS PubMed Web of Science® Google Scholar
3 Young K, Clark HB, Piccardo P, et al. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Mol Brain Res 1997; 44: 147–150
10.1016/S0169-328X(96)00251-3
CAS PubMed Web of Science® Google Scholar
4 Baker HF, Poulter M, Crow TJ, et al. Amino acid polymorphism in human prion protein and age at death in inherited prion disease. Lancet 1991; 337: 1286 (Letter)
10.1016/0140-6736(91)92953-Y
CAS PubMed Web of Science® Google Scholar
5 Antoine JC, Laplanche JL, Mosnier JF, et al. Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene. Neurology 1996; 46: 1123–1127
10.1212/WNL.46.4.1123
PubMed Web of Science® Google Scholar
6 Collinge J, Palmer MS, Campbell T, et al. Inherited prion disease (PrP lysine 200) in Britain: two case reports. BMJ 1993; 306: 301–302
10.1136/bmj.306.6873.301
CAS PubMed Web of Science® Google Scholar
7 Gabizon R, Rosenman H, Meiner Z, et al. Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease. Philos Trans R Soc Lond B Biol Sci 1994; 343: 385–390
10.1098/rstb.1994.0033
CAS PubMed Web of Science® Google Scholar
8 Salvatore M, Pocchiari M, Cardone F, et al. Codon 200 mutation in a new family of Chilean origin with CreutzfeldtJakob disease. J Neurol Neurosurg Psychiatry 1996; 61: 111–112 (Letter)
10.1136/jnnp.61.1.111
CAS PubMed Web of Science® Google Scholar
9 Inoue I, Kitamoto T, Doh-ura K, et al. Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene. Neurology 1994; 44: 299–301
10.1212/WNL.44.2.299
CAS PubMed Web of Science® Google Scholar
10 Kitamoto T, Doh-ura K, Muramoto T, et al. The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system. Am J Pathol 1992; 141: 271–277
PubMed Web of Science® Google Scholar
11 Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996; 39: 767–778
10.1002/ana.410390613
CAS PubMed Web of Science® Google Scholar
12 Parchi P, Capellari S, Chen SG, et al. Typing prion isoforms. Nature 1997; 386: 232–234
10.1038/386232a0
CAS PubMed Web of Science® Google Scholar
13 Kitamoto T, Tateishi J. Human prion diseases with variant prion protein. Philos Trans R Soc Lond B Biol Sci 1994; 343: 391–398
10.1098/rstb.1994.0034
CAS PubMed Web of Science® Google Scholar
14 Palmer MS, Mahal SP, Campbell TA, et al. Deletions in the prion protein gene are not associated with CJD. Hum Mol Genet 1993; 2: 541–544
10.1093/hmg/2.5.541
CAS PubMed Web of Science® Google Scholar
15 Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathol (Berl) 1991; 82: 239–259
10.1007/BF00308809
CAS PubMed Web of Science® Google Scholar
16 Hainfellner JA, Brantner Inthaler S, Cervenakova L, et al. The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995; 5: 201–211
10.1111/j.1750-3639.1995.tb00596.x
CAS PubMed Web of Science® Google Scholar
17 Riek R, Wider G, Billeter M, et al. Prion protein NMR structure and familial human transmissible spongiform encephalopathies. Proc Natl Acad Sci USA 1998; 95: 11667–11672
10.1073/pnas.95.20.11667
CAS PubMed Web of Science® Google Scholar
18 Telling GC, Parchi P, DeArmond SJ, et al. Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 1996; 274: 2079–2082
10.1126/science.274.5295.2079
CAS PubMed Web of Science® Google Scholar

Citing Literature

Volume45, Issue6

June 1999

Pages 812-816

A novel phenotype in familial Creutzfeldt-Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein

Abstract

References

Citing Literature

References

Information

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

A novel phenotype in familial Creutzfeldt-Jakob disease: Prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein

Abstract

References

Citing Literature

References

Related

Information