NR AEMX
AU Ghetti,B.; Tagliavini,F.; Giaccone,G.; Bugiani,O.; Frangione,B.; Farlow,M.R.; Dlouhy,S.R.
TI Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles
QU Molecular Neurobiology 1994 Feb; 8(1): 41-8
PT journal article; review; review, tutorial
AB Patients affected with Gerstmann-Sträussler-Scheinker disease from two families, one from Indiana and one of Swedish origin, have been studied. The patients are clinically characterized by cerebellar ataxia, extrapyramidal signs, and dementia. Accumulation of amyloid deposits and neurofibrillary tangles are the most conspicuous neuropathologic features. In the patients from the Indiana family, the amyloid contains an 11-kDa peptide, an amyloidogenic degradation product of the prion protein. The neurofibrillary tangles are composed of paired helical filaments and immunoreact with antibody to A68, an abnormally phosphorylated form of the microtubule-associated protein tau. In these families, the disease is caused by a point mutation in the PRNP gene. In the Indiana family, the mutation is at codon 198, and in the Swedish family at codon 217.
IN Bei einer schwedischen Familie verursacht eine Mutation im Codon 217 des Prionproteins das Gerstmann-Sträussler-Scheinker-Syndrom, bei einer Familie aus Indiana hat eine Mutation im Codon 198 den gleichen Effekt.
ZR 25
MH Aged; Amyloid/analysis; Animal; Case Report; Comparative Study; Female; Gerstmann-Sträussler-Scheinker Disease/*genetics/pathology; Hamsters; Human; Immunohistochemistry; Indiana; Male; Microscopy, Electron; Middle Age; *Neurofibrillary Tangles; *Point Mutation; PrPc Proteins; Prions/*genetics/immunology/metabolism; Protein Precursors/*genetics/immunology/metabolism; Support, U.S. Gov't, P.H.S.; Sweden; tau Proteins/analysis
AD Indiana University School of Medicine, Indianapolis.
SP englisch
PO USA