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. 1995 Jan;58(1):65–69. doi: 10.1136/jnnp.58.1.65

Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.

D Nicholl 1, O Windl 1, R de Silva 1, S Sawcer 1, M Dempster 1, J W Ironside 1, J P Estibeiro 1, G M Yuill 1, R Lathe 1, R G Will 1
PMCID: PMC1073270  PMID: 7823070

Abstract

A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described. Sequencing of the mutated allele showed an arrangement of six octapeptide repeats, distinct from that of a recently described British family with an insertion of similar size. Thirteen years previously the brother of the proband had died from "Huntington's disease", but re-examination of his neuropathology revealed spongiform encephalopathy and anti-prion protein immunocytochemistry gave a positive result. The independent evolution of at least two distinct pathological 144 base pair insertions in Britain is proposed. The importance of maintaining a high index of suspicion of inherited Creutzfeldt-Jakob disease in cases of familial neurodegenerative disease is stressed.

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Selected References

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  1. Brown P., Kaur P., Sulima M. P., Goldfarb L. G., Gibbs C. J., Jr, Gajdusek D. C. Real and imagined clinicopathological limits of "prion dementia". Lancet. 1993 Jan 16;341(8838):127–129. doi: 10.1016/0140-6736(93)90001-w. [DOI] [PubMed] [Google Scholar]
  2. Clinton J., Lantos P. L., Rossor M., Mullan M., Roberts G. W. Immunocytochemical confirmation of prion protein. Lancet. 1990 Aug 25;336(8713):515–515. doi: 10.1016/0140-6736(90)92074-r. [DOI] [PubMed] [Google Scholar]
  3. Collinge J., Brown J., Hardy J., Mullan M., Rossor M. N., Baker H., Crow T. J., Lofthouse R., Poulter M., Ridley R. Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features. Brain. 1992 Jun;115(Pt 3):687–710. doi: 10.1093/brain/115.3.687. [DOI] [PubMed] [Google Scholar]
  4. Collinge J., Owen F., Poulter M., Leach M., Crow T. J., Rossor M. N., Hardy J., Mullan M. J., Janota I., Lantos P. L. Prion dementia without characteristic pathology. Lancet. 1990 Jul 7;336(8706):7–9. doi: 10.1016/0140-6736(90)91518-f. [DOI] [PubMed] [Google Scholar]
  5. Collinge J., Poulter M., Davis M. B., Baraitser M., Owen F., Crow T. J., Harding A. E. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. Am J Hum Genet. 1991 Dec;49(6):1351–1354. [PMC free article] [PubMed] [Google Scholar]
  6. Doh-ura K., Tateishi J., Sasaki H., Kitamoto T., Sakaki Y. Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun. 1989 Sep 15;163(2):974–979. doi: 10.1016/0006-291x(89)92317-6. [DOI] [PubMed] [Google Scholar]
  7. Duchen L. W., Poulter M., Harding A. E. Dementia associated with a 216 base pair insertion in the prion protein gene. Clinical and neuropathological features. Brain. 1993 Jun;116(Pt 3):555–567. doi: 10.1093/brain/116.3.555. [DOI] [PubMed] [Google Scholar]
  8. Goldfarb L. G., Brown P., Little B. W., Cervenáková L., Kenney K., Gibbs C. J., Jr, Gajdusek D. C. A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease. Neurology. 1993 Nov;43(11):2392–2394. doi: 10.1212/wnl.43.11.2392. [DOI] [PubMed] [Google Scholar]
  9. Hsiao K. K., Scott M., Foster D., Groth D. F., DeArmond S. J., Prusiner S. B. Spontaneous neurodegeneration in transgenic mice with mutant prion protein. Science. 1990 Dec 14;250(4987):1587–1590. doi: 10.1126/science.1980379. [DOI] [PubMed] [Google Scholar]
  10. Hsiao K., Baker H. F., Crow T. J., Poulter M., Owen F., Terwilliger J. D., Westaway D., Ott J., Prusiner S. B. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature. 1989 Mar 23;338(6213):342–345. doi: 10.1038/338342a0. [DOI] [PubMed] [Google Scholar]
  11. Kitamoto T., Ohta M., Doh-ura K., Hitoshi S., Terao Y., Tateishi J. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun. 1993 Mar 15;191(2):709–714. doi: 10.1006/bbrc.1993.1275. [DOI] [PubMed] [Google Scholar]
  12. Kretzschmar H. A., Stowring L. E., Westaway D., Stubblebine W. H., Prusiner S. B., Dearmond S. J. Molecular cloning of a human prion protein cDNA. DNA. 1986 Aug;5(4):315–324. doi: 10.1089/dna.1986.5.315. [DOI] [PubMed] [Google Scholar]
  13. MEYER A., LEIGH D., BAGG C. E. A rare presenile dementia associated with cortical blindness (Heidenhain's syndrome). J Neurol Neurosurg Psychiatry. 1954 May;17(2):129–133. doi: 10.1136/jnnp.17.2.129. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. MacMillan J. C., Snell R. G., Tyler A., Houlihan G. D., Fenton I., Cheadle J. P., Lazarou L. P., Shaw D. J., Harper P. S. Molecular analysis and clinical correlations of the Huntington's disease mutation. Lancet. 1993 Oct 16;342(8877):954–958. doi: 10.1016/0140-6736(93)92002-b. [DOI] [PubMed] [Google Scholar]
  15. Masters C. L., Gajdusek D. C., Gibbs C. J., Jr The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer's disease. Brain. 1981 Sep;104(3):535–558. doi: 10.1093/brain/104.3.535. [DOI] [PubMed] [Google Scholar]
  16. Owen F., Poulter M., Collinge J., Leach M., Lofthouse R., Crow T. J., Harding A. E. A dementing illness associated with a novel insertion in the prion protein gene. Brain Res Mol Brain Res. 1992 Mar;13(1-2):155–157. doi: 10.1016/0169-328x(92)90056-h. [DOI] [PubMed] [Google Scholar]
  17. Owen F., Poulter M., Collinge J., Leach M., Shah T., Lofthouse R., Chen Y. F., Crow T. J., Harding A. E., Hardy J. Insertions in the prion protein gene in atypical dementias. Exp Neurol. 1991 May;112(2):240–242. doi: 10.1016/0014-4886(91)90075-n. [DOI] [PubMed] [Google Scholar]
  18. Owen F., Poulter M., Shah T., Collinge J., Lofthouse R., Baker H., Ridley R., McVey J., Crow T. J. An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Brain Res Mol Brain Res. 1990 Apr;7(3):273–276. doi: 10.1016/0169-328x(90)90038-f. [DOI] [PubMed] [Google Scholar]
  19. Poulter M., Baker H. F., Frith C. D., Leach M., Lofthouse R., Ridley R. M., Shah T., Owen F., Collinge J., Brown J. Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. Brain. 1992 Jun;115(Pt 3):675–685. doi: 10.1093/brain/115.3.675. [DOI] [PubMed] [Google Scholar]
  20. Will R. G., Matthews W. B., Smith P. G., Hudson C. A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970-1979. II: Epidemiology. J Neurol Neurosurg Psychiatry. 1986 Jul;49(7):749–755. doi: 10.1136/jnnp.49.7.749. [DOI] [PMC free article] [PubMed] [Google Scholar]

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