NR ACUG
AU Collinge,J.; Brown,J.; Hardy,J.; Mullan,M.; Rossor,M.N.; Baker,H.F.; Crow,T.J.; Lofthouse,R.; Poulter,M.; Ridley,R.; Owen,F.; Bennett,C.; Dunn,G.; Harding,A.E.; Quinn,N.; Doshi,B.; Roberts,G.W.; Honavar,M.; Janota,I.; Lantos,P.L.
TI Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features.
QU Brain: A Journal of Neurology 1992 Jun; 115(3): 687-710
PT journal article
AB A large family with autosomal dominant segregation of presenile dementia, and other neurological and behavioural features is described. At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, myoclonic epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome. Molecular genetic studies have enabled classification of this disease at the molecular level as one of the group of inherited prion diseases. Here we describe the phenotype of inherited prion disease (PrP 144 bp insertion).
IN Bei einer Familie führte eine 144 bp Insertion im Prionproteingen offenbar zu einer sehr unterschiedlich diagnostizierten Prionkrankheit.
MH Adult; Case Report; Central Nervous System Diseases/genetics/*pathology; Creutzfeldt-Jakob Syndrome/genetics/*pathology; Female; Human; Male; Middle Age; Pedigree; Phenotype; PrPsc Proteins; *Prions; Support, Non-U.S. Gov't
AD Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, UK
SP englisch
PO England