Acta Neuropathologica

, Volume 84, Issue 1, pp 15–23 | Cite as

Gerstmann-Sträussler syndrome — A variant type: amyloid plaques and Alzheimer's neurofibrillary tangles in cerebral cortex

  • Naoji Amano
  • Saburo Yagishita
  • Susumu Yokoi
  • Yoji Itoh
  • Jun Kinoshita
  • Toshio Mizutani
  • Takeshi Matsuishi
Regular Papers

Summary

This report presents a variant of Gerstmann-Sträussler syndrome (GSS). A 53-year-old female had developed slowly progressive dementia and atactic gait since the age of 45. No myoclonic jerks and periodic synchronous discharges were observed throughout the illness. The neuropathological study revealed that many amyloid plaques and widespread Alzheimer's neurofibrillary tangles (NFTs) appeared in the cerebral cortex. Characteristically, the plaques reacted with anti-prion protein and none of them reacted with anti-β protein, and they were made of many components, including amyloid cores, macrophages laden with lipid granules and/or degenerated neurites. Neuropil threads were seen mainly in amyloid plaques. Moreover, plaques appeared which were confluent and laminar in arrangement in the fifth and sixth cortical layers and had a close relationship to the neuronal loss. There was no spongiform change in the cerebral cortex or cerebellum. The cerebellum was almost intact except for a few amyloid plaques. Ultrastructurally, some of the plaques simulated kuru plaques and others had many degenerated neurites possessing paired helical filaments and other accumulated organelles. GSS has been proposed to include cases with progressive ataxia, dementia and massive multifocal plaques in the brain with or without cerebral spongiform changes. The case presented here is a very peculiar case of GSS. Recently, similar cases have been reported in some large families, diagnosed as familial Alzheimer's disease. These cases may be a telencephalic form with numerous NFTs of GSS.

Key words

Gerstmann-Sträussler syndrome Variant Amyloid plaques Alzheimer's neurofibrillary tangles Prion protein 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Azzarelli B, Muller J, Ghetti B, Dyken M, Conneally PM (1985) Cerebellar plaques in familial Alzheimer's disease (Gerstmann-Sträussler-Scheinker variant?). Acta Neuropathol (Berl) 65:235–246Google Scholar
  2. 2.
    Brown P, Cathala F, Raubertas RF, Castaigne P, Gajdusek DC (1987) Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases. Ann Neurol 20:597–602Google Scholar
  3. 3.
    Courten-Myers G, Mandybur TI (1987) Atypical Gerstmann-Sträussler syndrome or familial spinocerebellar ataxia and Alzheimer's disease? Neurology 37:269–275Google Scholar
  4. 4.
    Doh-ura K, Tateishi J, Kitamoto T, Sakaki Y (1990) Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Sträussler syndrome. Ann Neurol 27:121–126Google Scholar
  5. 5.
    Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J (1991) CJD descrepancy. Scientific correspondence. Nature 353:801–802Google Scholar
  6. 6.
    Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B (1989) Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 39:1446–1452Google Scholar
  7. 7.
    Ghetti B, Tagliavini F, Masters CL, Beyreuther K, Giaccone G, Verga L, Farlow MR, Conneally PM, Dlouhy SR, Azzarelli B, Bugiani O (1989) Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexisting in an affected family. Neurology 39:1453–1461Google Scholar
  8. 8.
    Hashiguchi H, Shii H, Kitamoto T, Tateishi J (1988) An autopsy case of Gerstmann-Sträussler-Scheinker's disease with family history. Clin Neurol (Tokyo) 28:681–687Google Scholar
  9. 9.
    Hirano A, Ghatak NR, Johnson AB, Partnow MJ, Gomori AJ (1972) Argentophilic plaques in Creutzfeldt-Jakob disease. Arch Neurol 26:530–542Google Scholar
  10. 10.
    Hirano T, Tsuchiyama H, Kawai K, Mori K (1977) An autopsy case of Creutzfeldt-Jakob disease with Kuru-like neuropathological changes. Acta Pathol Jpn 27: 231–238Google Scholar
  11. 11.
    Hsiano KK, Cass C, Schellenberg GD, Bird T, Devine-Gage E, Wisniewski H, Prusiner SB (1991) A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome. Neurology 41:681–684Google Scholar
  12. 12.
    Iwabuchi K, Nakano T, Yagishita S (1983) A case of Creutzfeldt-Jacob disease with amyloid plaques. Neuropathology 3:157Google Scholar
  13. 13.
    Kitamoto T, Tateishi J, Tashima T, Takeshita I, Barry RA, DeArmond SJ, Prusiner SB (1986) Amyloid plaques in Creutzfeldt-Jakob disease stain with prion protein antibodies. Ann Neurol 20:204–208Google Scholar
  14. 14.
    Kuroda S, Morisada A, Tateishi J, Fukui H, Hosokawa K (1977) A necropsy case of progressive ataxia ending in apallic state with Kuru plaques. Brain Nerve (Tokyo) 29:301–306Google Scholar
  15. 15.
    Kuzuhara S, I Kanazawa, Sasaki H, Nakanishi T, Shimamura K (1983) Gerstmann-Sträussler-Scheinker's disease. Ann Neurol 14:216–225Google Scholar
  16. 16.
    Liberski PP, Papierz W, Alwasiak J (1987) Creutzfeldt-Jakob disease with plaques and paired helical filaments. Acta Neurol Scand 76:428–432Google Scholar
  17. 17.
    Masters CL, Gajdusek DC, Gibbs CJ (1981) Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler-Scheinker syndrome. With an analysis of the various forms of amyloid plaque deposition in the virus-induced spongiform encephalopathies. Brain 104:559–588Google Scholar
  18. 18.
    Matsuoka T, Hamanaka T, Taii S, Tatebayashi Y, Kijima S, Nishikawa T (1970) Subacute spongiform encephalopathy as a subtype of Creutzfeldt-Jakob's disease — Report of two cases. Psychiatr Neurol Jpn 70:671–690Google Scholar
  19. 19.
    Mitsuyama Y, Takamatsu I, Shinkai A (1970) An autopsy case of an unclassifiable presenile dementia reminiscent of Creutzfeldt-Jakob disease. Psychiatr Neurol Jpn 70:1146–1158Google Scholar
  20. 20.
    Motomura S, Yamashita Y, Kawanami S, Ohta M, Kuroiwa Y (1977) An autopsy report of spongiform encephalopathy with Kuru plaques and leukomalacia. Clin Neurol (Tokyo) 17:758–764Google Scholar
  21. 21.
    Nakamura T, Takamatsu I, Shida K, Kotorii K, Anraku S, Kida H (1979) A case of subacute spongiform encephalopathy with numerous Kuru-plaques in the cerebral and cerebellar cortices. Adv Neurol Sci 23:484–492Google Scholar
  22. 22.
    Nakashima K, Makino T, Kinoshita J, Yagishita S (1976) A peculiar case of panencephalopathy with widespread distribution of plaques, status spongiosus and demyelination. Adv Neurol Sci 20:362–371Google Scholar
  23. 23.
    Nochlin D, Sumi SM, Bird TD, Snow AD, Leventhal CM, Beyreuther K, Masters CL (1989) Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome. Neurology 39:910–918Google Scholar
  24. 24.
    Pearlman RL, Towfighi J, Pezeshkpour GH, Tenser RB, Turel AP (1988) Clinical significance of types of cerebellar amyloid plaques in human spongiform encephalopathies. Neurology 38:1249–1254Google Scholar
  25. 25.
    Prusiner SB (1987) Prions and neurodegenerative diseases. N Engl J Med 317:1571–1581Google Scholar
  26. 26.
    Roberts GW, Brown R, Barry RA (1986) Prion-protein immunoreactivity in human transmissible dementias. N Engl J Med 315:1231–1233Google Scholar
  27. 27.
    Suetsugu M, Satoh Y, Tateishi J (1980) An autopsy case of subacute spongiform encephalopathy with kuru plaques. Adv Neurol Sci 24:376Google Scholar
  28. 28.
    Tateishi J, Kitamoto T, Hashiguchi H, Shii H (1988) Gerstmann-Sträussler-Scheinker's disease: immunohistological and experimental studies. Ann Neurol 24:35–40Google Scholar
  29. 29.
    Tomi H, Sunohara N, Mukoyama M, Ando K, Satoyoshi E (1984) Subacute spongiform encephalopathy with Kuru-like plaques — Comparison with Gerstmann-Sträussler-Scheinker disease. Clin Neurol (Tokyo) 24:367–370Google Scholar
  30. 30.
    Vinters HV, Hudson AJ, Kaufmann JCE (1986) Gerstmann-Sträussler-Scheinker disease: autopsy study of a familial case. Ann Neurol 20:540–543Google Scholar
  31. 31.
    Yagishita S (1981) Creutzfeldt-Jakob disease with Kuru-like plaques in Japan. Acta Pathol Jpn 31:923–942Google Scholar
  32. 32.
    Yoshimura T, Tateishi J, Tsujihata M, Muro T, Mameya G, Nagataki S (1984) A case of spongiform encephalopathy with ataxia and amyloid plaques. Brain Nerve (Tokyo) 36:789–795Google Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Naoji Amano
    • 1
    • 2
  • Saburo Yagishita
    • 1
    • 2
  • Susumu Yokoi
    • 1
    • 2
  • Yoji Itoh
    • 1
    • 2
  • Jun Kinoshita
    • 3
  • Toshio Mizutani
    • 4
  • Takeshi Matsuishi
    • 5
  1. 1.Division of Neuro-psychiatryThe Kanagawa Rehabilitation CenterAtsugi, KanagawaJapan
  2. 2.Division of PathologyThe Kanagawa Rehabilitation CenterAtsugi, KanagawaJapan
  3. 3.Takanedai HospitalHiratsuka, KanagawaJapan
  4. 4.Department of NeuropathologyTokyo Metropolitan Institute of GerontologyTokyoJapan
  5. 5.Faculty of EducationYokohama National UniversityYokohama, KanagawaJapan

Personalised recommendations