Neurology · 1997 · 78 citations · 6 references
Veterinary MedicineGeneticsNeurologyNeurodegenerationNeurogeneticsPrion DiseasesCreutzfeldt-jakob DiseaseFamilial Prion DiseaseFatal Familial InsomniaNeurodegenerative DiseasesNeurodegenerative DisordersNeuropathology Of Prion DiseaseAutosomal Dominant AtaxiaCodon 129 PolymorphismFamilial Prion Disease PhenotypesFatal Familial Insomnia NeuropathologyPhenotype-genotype CorrelationPolymorphisms At Codon 129Prion Disease PathologySpongiform Degeneration
Fatal familial insomnia (FFI) is an inherited prion disease characterized by progressive insomnia and dysautonomia with only modest cognitive impairment early in the disease, associated with atrophy and gliosis in the medial thalamus, but without spongiform change. FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M). We report a pedigree with this genotype in which marked clinicopathologic phenotypic heterogeneity occurred including typical Creutzfeldt-Jakob disease, FFI, and what was thought to be an autosomal dominant cerebellar ataxia (ADCA)-like-illness, suggesting that the genotype-phenotype correlation is not as tight for this mutation as is frequently supposed.
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L. Monari, Shu G. Chen, Patrick O. Brown et al. · Proceedings of the National Academy of Sciences · 1994 · 332 citations · Full text
How accurately can Parkinson's disease be diagnosed?