Article
The clinical features in Chinese patients with PRNP D178N mutation.
Acta neurologica Scandinavica - 1 Aug 2018
Chen S, He S, Shi X-H, Shen X-J, Liang K-K, Zhao J-H, Yan B-C, Zhang J-W
Abstract excerpt
BACKGROUND AND PURPOSE: Fatal familial insomnia (FFI) is an autosomal dominant disease due to the D178N mutation of PRNP gene coupling with homozygous methionine (Met) at codon 129. It is generally considered that D178N mutation cases with 129 M/M homozygotes present as FFI, and 129 V/V as genetic CJD. However, the frequency of 129 Met alleles in Chinese population is much higher than that in Caucasians. This...
Topics
- Adult
- Aged
- Asian People
- Female
- Genotype
- Humans
- Insomnia, Fatal Familial
- Male
- Middle Aged
- Mutation
- Phenotype
- Prion Proteins