Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.
The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler 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.
Division of Psychiatry, Clinical Research Centre, Harrow, England.
J
J
Collinge
M
M
Poulter
M B
MB
Davis
M
M
Baraitser
F
F
Owen
T J
TJ
Crow
A E
AE
Harding
D000328:Adult; D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005814:Genes, Viral; D005817:Genetic Counseling; D016098:Gerstmann-Straussler-Scheinker Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics*; D012307:Risk Factors; D015678:Viral Structural Proteins / Q000235:genetics
D018620:PrPSc Proteins; D011328:Prions; D015678:Viral Structural Proteins