Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

Citation
J. Collinge, et al., Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases., American journal of human genetics , 49-II(5), 1991, pp. 1351-1354
ISSN journal
00029297
Volume
49-II
Issue
5
Year of publication
1991
Pages
1351 - 1354
Database
ACNP
SICI code
Abstract
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.