Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1992 Mar;55(3):185–187. doi: 10.1136/jnnp.55.3.185

Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies.

C Tranchant 1, K Doh-ura 1, J M Warter 1, G Steinmetz 1, Y Chevalier 1, A Hanauer 1, T Kitamoto 1, J Tateishi 1
PMCID: PMC1014721  PMID: 1348783

Abstract

The clinical progression of Gerstmann-Sträussler-Scheinker disease in a family of Alsatian origin is reported. The age of onset and the duration of evolution were variable. The clinical picture became more complex over the generations: in the first generations, isolated dementia and in later generations a triad of pyramidal, pseudobulbar syndromes and dementia associated with spinal cord and cerebellar features. Prion gene analysis showed that four surviving patients carry double missense changes at codons 117 and 129, identical to those found in one case at necropsy and 10 other healthy members of the family. The missense changes were not found in 100 controls. No member of the family had modification of condons 102, 178, or 200. The lod score suggests linkage between the missense change at codon 117 and Gerstmann-Sträussler-Scheinker disease in this family.

Full text

PDF
185

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Baker H. E., Poulter M., Crow T. J., Frith C. D., Lofthouse R., Ridley R. M. Aminoacid polymorphism in human prion protein and age at death in inherited prion disease. Lancet. 1991 May 25;337(8752):1286–1286. doi: 10.1016/0140-6736(91)92953-y. [DOI] [PubMed] [Google Scholar]
  2. Barker D., Schafer M., White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 1984 Jan;36(1):131–138. doi: 10.1016/0092-8674(84)90081-3. [DOI] [PubMed] [Google Scholar]
  3. Brown P., Coker-Vann M., Pomeroy K., Franko M., Asher D. M., Gibbs C. J., Jr, Gajdusek D. C. Diagnosis of Creutzfeldt-Jakob disease by Western blot identification of marker protein in human brain tissue. N Engl J Med. 1986 Feb 27;314(9):547–551. doi: 10.1056/NEJM198602273140904. [DOI] [PubMed] [Google Scholar]
  4. Carlson G. A., Kingsbury D. T., Goodman P. A., Coleman S., Marshall S. T., DeArmond S., Westaway D., Prusiner S. B. Linkage of prion protein and scrapie incubation time genes. Cell. 1986 Aug 15;46(4):503–511. doi: 10.1016/0092-8674(86)90875-5. [DOI] [PubMed] [Google Scholar]
  5. Collinge J., Harding A. E., Owen F., Poulter M., Lofthouse R., Boughey A. M., Shah T., Crow T. J. Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis. Lancet. 1989 Jul 1;2(8653):15–17. doi: 10.1016/s0140-6736(89)90256-0. [DOI] [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. Goldgaber D., Goldfarb L. G., Brown P., Asher D. M., Brown W. T., Lin S., Teener J. W., Feinstone S. M., Rubenstein R., Kascsak R. J. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome. Exp Neurol. 1989 Nov;106(2):204–206. doi: 10.1016/0014-4886(89)90095-2. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. 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]
  10. Lathrop G. M., Lalouel J. M. Efficient computations in multilocus linkage analysis. Am J Hum Genet. 1988 Mar;42(3):498–505. [PMC free article] [PubMed] [Google Scholar]
  11. Masters C. L., Gajdusek D. C., Gibbs C. J., Jr Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler syndrome with an analysis of the various forms of amyloid plaque deposition in the virus-induced spongiform encephalopathies. Brain. 1981 Sep;104(3):559–588. doi: 10.1093/brain/104.3.559. [DOI] [PubMed] [Google Scholar]
  12. Nochlin D., Sumi S. M., Bird T. D., Snow A. D., Leventhal C. M., Beyreuther K., Masters C. L. Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome. Neurology. 1989 Jul;39(7):910–918. doi: 10.1212/wnl.39.7.910. [DOI] [PubMed] [Google Scholar]
  13. Prusiner S. B. Prions and neurodegenerative diseases. N Engl J Med. 1987 Dec 17;317(25):1571–1581. doi: 10.1056/NEJM198712173172505. [DOI] [PubMed] [Google Scholar]
  14. Rosenthal N. P., Keesey J., Crandall B., Brown W. J. Familial neurological disease associated with spongiform encephalopathy. Arch Neurol. 1976 Apr;33(4):252–259. doi: 10.1001/archneur.1976.00500040036005. [DOI] [PubMed] [Google Scholar]
  15. Tateishi J., Kitamoto T., Doh-ura K., Sakaki Y., Steinmetz G., Tranchant C., Warter J. M., Heldt N. Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome. Neurology. 1990 Oct;40(10):1578–1581. doi: 10.1212/wnl.40.10.1578. [DOI] [PubMed] [Google Scholar]
  16. Warter J. M., Steinmetz G., Heldt N., Rumbach L., Marescaux C., Eber A. M., Collard M., Rohmer F., Floquet J., Guedenet J. C. Démence pré-sénile familiale: syndrome de Gerstmann-Sträussler-Scheinker. Rev Neurol (Paris) 1982;138(2):107–121. [PubMed] [Google Scholar]
  17. Westaway D., Goodman P. A., Mirenda C. A., McKinley M. P., Carlson G. A., Prusiner S. B. Distinct prion proteins in short and long scrapie incubation period mice. Cell. 1987 Nov 20;51(4):651–662. doi: 10.1016/0092-8674(87)90134-6. [DOI] [PubMed] [Google Scholar]
  18. Wu Y., Brown W. T., Robakis N. K., Dobkin C., Devine-Gage E., Merz P., Wisniewski H. M. A PvuII RFLP detected in the human prion protein (PrP) gene. Nucleic Acids Res. 1987 Apr 10;15(7):3191–3191. doi: 10.1093/nar/15.7.3191. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES