NR AJCY
AU Owen,F.; Poulter,M.; Collinge,J.; Leach,M.; Shah,T.; Lofthouse,R.; Chen,Y.F.; Crow,T.J.; Harding,A.E.; Hardy,J.; Rossor,M.N.
TI Insertions in the prion protein gene in atypical dementias
QU Experimental Neurology 1991 May; 112(2): 240-2
PT journal article
AB A number of mutations have been demonstrated in the open reading frame (ORF) of the prion protein (PrP) gene in patients with familial Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. On the basis of detecting an insertion in the ORF of the PrP gene in a patient originally suspected to be suffering from familial Alzheimer-type dementia, we screened 101 individuals with atypical dementias for the known PrP gene mutations. Insertions were found in five individuals, whereas none of the other reported mutations in the PrP gene was detected in the present study. One of the five insertions was larger than that described previously, suggesting that the individuals with these mutations are unlikely to be all lineally related and that insertions in the PrP gene may not be uncommon in prion diseases.
IN Von 101 Patienten mit atypischen Demenzen zeigten 5 eine Insertionsmutation im Prionprotein, jedoch keiner eine der anderen bekannten Mutationen.
MH Alzheimer Disease/*genetics; Base Sequence; Codon/genetics; Creutzfeldt-Jakob Syndrome/*genetics; *DNA Transposable Elements; Dementia/*genetics; *Genes, Viral; Gerstmann-Sträussler-Scheinker Disease/*genetics; Human; Molecular Sequence Data; *Mutation; Nucleic Acid Hybridization; Oligonucleotide Probes; Open Reading Frames; PrPsc Proteins; Prions/*genetics; Viral Proteins/*genetics
AD Frank Owen, Mark Poulter, John Collinge, Martin Leach, Tarulata Shah, Raymond Lofthouse, Yanfang Chen, Tim J. Crow, Division of Psychiatry, Clinical Research Centre, Watford Road, Harrow, Middlesex, HA1 3UJ, United Kingdom; Anita E. Harding, Martin N. Rossor, The National Hospital, Queen Square, London, WC1N 3BG, United Kingdom; John Hardy, Martin N. Rossor, St. Mary's Hospital, Praed Street, London, W2 1NY, United Kingdom
SP englisch
PO USA