NR ACUH
AU Collinge,J.; Poulter,M.; Davis,M.B.; Baraitser,M.; Owen,F.; Crow,T.J.; Harding,A.E.
TI Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases
QU American Journal of Human Genetics 1991 Dec; 49(6): 1351-4
PT journal article
AB The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The presence of a PrP gene defect was confirmed in one and excluded in two. Despite the potential problems of using PrP gene analysis in genetic prediction - specifically, uncertainty about penetrance and, generally, problems of presymptomatic testing in any inherited late-onset neurodegenerative disorder - we conclude that it has a role to play in improved genetic counseling for families with inherited prion diseases.
IN In Familien mit erblich bedingten Häufungen von Creutzfeldt-Jakob-Erkrankungen oder Gerstmann-Sträussler-Syndromen wurden Defekte im Prionproteingen identifiziert. Bekannt sind eine 144-bp Insertion und eine Punktmutation im Codon 102 des PrP-Genes. Damit werden genetische Frühdiagnosen möglich.
MH Adult; Base Sequence; Creutzfeldt-Jakob Syndrome/diagnosis/*genetics; Female; Genes, Structural, Viral; Genetic Counseling; Gerstmann-Sträussler-Scheinker Disease/diagnosis/*genetics; Human; Male; Middle Age; Molecular Sequence Data; *Mutation; PrPsc Proteins; Prions/*genetics; Risk Factors; Support, Non-U.S. Gov't
AD Division of Psychiatry, Clinical Research Centre, Harrow, England.
SP englisch
PO USA