Gerstmann-sträussler-scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family

Bernardino Ghetti, F. Tagliavini, C. L. Masters, K. Beyreuther, G. Ciaccone, L. Verga, Martin Farlow, P. M. Conneally, Stephen Dlouhy, B. Azzarelli, O. Bugiani

Research output: Contribution to journalArticle

154 Citations (Scopus)

Abstract

Azzarelli et al reported an Indiana kindred affected by a hereditary disorder, characterized clinically by ataxia, parkinsonism, and dementia. Recently, we studied neuropathologically the 3rd and 4th cases that came to autopsy among the patients of this family. As in 2 patients examined previously, amyloid plaques were widespread throughout the cerebrum and the cerebellum, whereas neurofibrillary tangles were numerous in the cerebral cortex, the hippocampus, and the substantia innomineta. Amyloid plaques were not recognized by polyclonal antibodies against the Alzheimer’s disease amyloid A4 protein, but did contain epitopes recognized by antibodies against a prion protein. Spongiform changes were occasionally observed and were mild. Our findings indicate that this familial disorder is a form of or is related to Cerstmann-Straussler-Scheinker disease. The consistent presence of numerous neurofibrillary tangles may be important in differentiating a distinct subgroup of patients with familial Cerstmann-Sträussler-Scheinker disease, and indicates that a disturbance of the cytoskeleton might be part of the neuronal pathology of Gerstmann-Sträussler-Scheinker disease.

Original languageEnglish
Pages (from-to)1453-1461
Number of pages9
JournalNeurology
Volume39
Issue number11
StatePublished - 1989

Fingerprint

Neurofibrillary Tangles
Amyloid
Amyloid Plaques
Antibodies
Amyloid beta-Peptides
Cerebrum
Parkinsonian Disorders
Ataxia
Cytoskeleton
Cerebral Cortex
Cerebellum
Dementia
Epitopes
Autopsy
Hippocampus
Alzheimer Disease
Pathology
Protein
Familial

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Ghetti, B., Tagliavini, F., Masters, C. L., Beyreuther, K., Ciaccone, G., Verga, L., ... Bugiani, O. (1989). Gerstmann-sträussler-scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology, 39(11), 1453-1461.

Gerstmann-sträussler-scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. / Ghetti, Bernardino; Tagliavini, F.; Masters, C. L.; Beyreuther, K.; Ciaccone, G.; Verga, L.; Farlow, Martin; Conneally, P. M.; Dlouhy, Stephen; Azzarelli, B.; Bugiani, O.

In: Neurology, Vol. 39, No. 11, 1989, p. 1453-1461.

Research output: Contribution to journalArticle

Ghetti, B, Tagliavini, F, Masters, CL, Beyreuther, K, Ciaccone, G, Verga, L, Farlow, M, Conneally, PM, Dlouhy, S, Azzarelli, B & Bugiani, O 1989, 'Gerstmann-sträussler-scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family', Neurology, vol. 39, no. 11, pp. 1453-1461.
Ghetti, Bernardino ; Tagliavini, F. ; Masters, C. L. ; Beyreuther, K. ; Ciaccone, G. ; Verga, L. ; Farlow, Martin ; Conneally, P. M. ; Dlouhy, Stephen ; Azzarelli, B. ; Bugiani, O. / Gerstmann-sträussler-scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. In: Neurology. 1989 ; Vol. 39, No. 11. pp. 1453-1461.
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