Related Experiment Videos
Fatal familial insomnia: clinical and pathologic heterogeneity in genetic half brothers
M D Johnson1, C L Vnencak-Jones, M J McLean
1Department of Pathology, Vanderbilt Medical School, Nashville, TN 37232, USA.
Abstract:
We describe clinical and pathologic features of a patient with fatal familial insomnia (FFI) whose prion (PrP) genotype is D178N coupled with methionine at codon 129 on his mutant allele and valine at codon 129 on his normal allele. A cousin (genetic half brother) with identical PrP genotypes exhibited strikingly different clinical and pathologic changes. Comparison of these cousins shows the phenotypic heterogeneity of FFI and suggests that the phenotypic expression of D178N is influenced by multiple factors.
Insights
Fatal familial insomnia (FFI) shows varied symptoms even with identical prion gene mutations. This suggests that factors beyond the D178N mutation influence the disease
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Fatal familial insomnia (FFI) is a rare, inherited prion disease.
- It is characterized by progressive insomnia, autonomic dysfunction, and cognitive decline.