NR ALSV
AU Tranchant,C.; Sergeant,N.; Wattez,A.; Mohr,M.; Warter,J.M.; Delacourte,A.
TI Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation
QU Journal of Neurology, Neurosurgery and Psychiatry 1997 Aug; 63(2): 240-6
PT journal article
AB One patient of a French family with Gerstmann-Sträussler-Scheinker syndrome with the mutation in codon 117 of the prion protein (PrP) gene displayed unexpected neuritic degeneration around PrP plaques and numerous diffuse neurofibrillary tangles, whereas other members did not. The tau profile in this patient's brain was analysed and compared with one from another member of the Gerstmann-Sträussler-Scheinker family as well as with the Alzheimer's tau profile. A panel of well characterised antibodies against both normal tau protein and paired helical filaments-tau protein was used on immunoblots of brain proteins resolved by mono and two dimensional gels. The tau profile in the patient with Gerstmann-Sträussler-Scheinker syndrome without neurofibrillary tangles was normal. The tau profile from the patient with Gerstmann-Sträussler-Scheinker syndrome and neurofibrillary tangles was characterised by a hyperaggregation state of tau protein. This case illustrates the phenotypic heterogeneity of the GSS117 mutation not only from one family to another, but also between members of the same family. In this family, the presence of neurofibrillary tangles is still unexplained, but could be correlated with either the protracted duration of the disease or the old age of the patient.
IN In einer französischen Familie tritt das Gerstmann-Sträussler-Scheinker-Syndrom aufgrund einer Prionprotein-Mutation von 117Alanin zu 117 Valin gehäuft auf. Bei einem Mitglied dieser Famlie fiel eine ungewöhnliche Zerstörung von Nervenfasern (Axonen) rund um Prionproteinablagerungen. Während die anderen Familienmitglieder ein normales tau-Profil zeigten, zeigten Immunoblots mit Antikörpern gegen verschiedene Formen des Tau-Proteins bei dem einen Patienten einen Hyperaggregations-Status des Tau-Proteins. Solche Variationen können offensichtlich zur Variabilität der Prion-Krankheiten beitragen.
ZR 28
MH Adult; Case Report; Codon; Female; Genotype; Gerstmann-Sträussler-Scheinker Disease/*genetics; Human; Middle Age; Neurofibrillary Tangles/*genetics; Phenotype; *Point Mutation; Prions/*genetics; tau Proteins/analysis
AD Service des Maladies du Systeme Nerveux et du Muscle, Hopitaux Universitaires, Strasbourg, France.
SP englisch
PO England