Prion disease (PrP-A117V) presenting with ataxia instead of dementia

Neurology

Volumn 45, Issue 11, 1995, Pages 2042-2050

  Mastrianni, J A ^a   Curtis, M T ^b   Oberholtzer, J C ^b   Da Costa, M M ^a   De Armond, S ^a   Prusiner, Stanley B ^a   Garbern, J Y ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; ATAXIA; CASE REPORT; DEMENTIA; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRION DISEASE;

ADULT; ATAXIA; BASE SEQUENCE; DEMENTIA; DNA; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PRION DISEASES;

EID: 0029398569     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.45.11.2042     Document Type: Article

References (43)

1. Hsiao K, Baker HF, Crow TJ, et al. Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature 1989;338:342–345.
2. Speer MC, Goldgaber D, Goldfarb LG, Roses AD, Pericak- Vance MA. Support of linkage of Gerstmann-Straussler- Scheinker syndrome to the prion protein gene on chromosome 20pl2-pter. Genomics 1991;9:366–368.
3. Prusiner SB. Scrapie prions: molecular genetics and cell biology. Semin Virol 1991;2:165–179.
4. Bruce ME, McBride PA, Farquhar CF. Precise targeting of the pathology of the sialoglycoprotein, PrP, and vacuolar degeneration in mouse scrapie. Neurosci Lett 1989;102:1–6.
5. Prusiner SB. Chemistry and biology of prions. Biochemistry 1992;31:12278–12288.
6. Askanas V, Bilak M, Engel WK, Leclerc A, Tome F. Prion protein is strongly immunolocalized at the postsynaptic domain of human normal neuromuscular junctions. Neurosci Lett 1993;159:111–114.
7. Borchelt DR, Koliatsis VE, Guarnieri M, Pardo CA, Sisodia SS, Price DL. Rapid anterograde axonal transport of the cellular prion glycoprotein in the peripheral and central nervous systems. J Biol Chem 1994;269:14711–14714.
8. Collinge J, Whittington MA, Sidle KC, et al. Prion protein is necessary for normal synaptic function. Nature 1994;370: 295–297.
9. Chapman J, Brown P, Rabey JM, et al. Transmission of spongiform encephalopathies from a familial Creutzfeldt- Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation. Neurology 1992;42:1249–1250.
10. Kitamoto T, Tateishi J, Sawa H, Doh-Ura K. Positive transmission of Creutzfeldt-Jakob disease verified by murine kuru plaques. Lab Invest 1989;60:507–512.
11. Lantos PL. From slow virus to prion: a review of transmissible spongiform encephalopathies. Histopathology 1992;20:1–11.
12. Prusiner SB, Cochran SP, Alpers MP. Transmission of scrapie in hamsters. J Infect Dis 1985;152:971–978.
13. Gerstmann J, Straussler E, Scheinker I. Uber eine eigenar- tige hereditar-familiare Erkrankung des Zentralnervensys- tems zugleich ein Beitrag zur frage des vorzeitigen lokalen Alterns. Z Neurol 1936;154:736–762.
14. Kretzschmar HA, Kufer P, Riethmiiller G, DeArmond S, Prusiner SB, Schiffer D. Prion protein mutation at codon 102 in an Italian family with Gerstmann-Straussler- Scheinker syndrome. Neurology 1992;42:809–810.
15. Rosenthal NP, Keesey J, Crandall B, Brown WJ. Familial neurological disease associated with spongiform encephalopathy. Arch Neurol 1976;33:252–259.
16. 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- Straussler syndrome. Blochem Biophys Res Commun 1989; 163:974–979.
17. Goldhammer Y, Gabizon R, Meiner Z, Sadeh M. An Israeli family with Gerstmann-Straussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene. Neurology 1993;43:2718–2719.
18. Kitamoto T, Amano N, Terao Y, et al. A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol 1993;34:808–813.
19. Hsiao KK, Cass C, Schellenberg GD, et al. A prion protein variant in a family with the telencephalic form of Gerstmann-Straussler-Scheinker syndrome. Neurology 1991;41: 681–684.
20. Kitamoto T, Iizuka R, Tateishi J. An amber mutation of prion protein in Gerstmann-Straussler syndrome with mutant PrP plaques. Biochem Biophys Res Commun 1993; 192:525–531.
21. Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B. Gerstmann-Straussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 1989;39:1446–1452.
22. Ghetti B, Tagliavini F, Masters CL, et al. Gerstmann- Straussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology 1989;39:1453–1461.
23. Hsiao K, Dlouhy S, Farlow MR, et al. Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1992;1:68–71.
24. Baker HF, Ridley RM, Crow TJ. Experimental transmission of an autosomal dominant spongiform encephalopathy: does the infectious agent originate in the human genome? BMJ 1985;291:299–302.
25. Hsiao K, Prusiner SB. Inherited human prion diseases. Neurology 1990;40:1820–1827.
26. Brown P. The phenotypic expression of different mutations in transmissible human spongiform encephalopathy. Rev Neurol (Paris) 1992;148:317–327.
27. Prusiner SB, Hsiao KK. Human prion diseases. Ann Neurol 1994;35:385–395.
28. Prusiner SB. Inherited prion diseases. Proc Natl Acad Sci USA 1994;91:4611–4614.
29. 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.
30. Petersen RB, Tabaton M, Berg L, et al. Analysis of the prion protein gene in thalamic dementia. Neurology 1992;42:1859- 1863.
31. 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.
32. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning—a laboratory manual. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
33. Muramoto T, Kitamoto T, Tateishi J, Goto I. The sequential development of abnormal prion protein accumulation in mice with Creutzfeldt-Jakob disease. Am J Pathol 1992;140: 1411–1420.
34. Kretzschmar HA, Honold G, Seitelberger F, et al. Prion protein mutation in family first reported by Gerstmann, Straus- sler, and Scheinker. Lancet 1991;337:1160.
35. Hsiao KK, Scott M, Foster D, Groth DF, DeArmond SJ, Prusiner SB. Spontaneous neurodegeneration in transgenic mice with mutant prion protein. Science 1990;250:1587–1590.
36. Tranchant C, Doh-ura K, Warter JM, et al. Gerstmann- Straussler-Scheinker disease in an Alsatian family: clinical and genetic studies. J Neurol Neurosurg Psychiatry 1992; 55:185–187.
37. Collinge J, Harding AE, Owen F, et al. Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis. Lancet 1989;2:15–17.
38. Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt- Jakob disease. Nature 1991;352:340–342.
39. Manetto V, Medori R, Cortelli P, et al. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology 1992;42:312–319.
40. 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. Phil Trans R Soc Lond B 1994;343:385–390.
41. Owen F, Poulter M, Collinge J, Crow TJ. Codon 129 changes in the prion protein gene in Caucasians. Am J Hum Genet 1990;46:1215–1216.
42. Carlson GA, Ebeling C, Yang S-L, et al. Prion isolate specified allotypic interactions between the cellular and scrapie prion proteins in congenic and transgenic mice. Proc Natl Acad Sci USA 1994;91:5690–5694.
43. Marsh RF, Sipe JC, Morse SS, Hanson RP. Transmissible mink encephalopathy: reduced spongiform degeneration in aged mink of the Chediak-Higashi genotype. Lab Invest 1976;34:381–386.