Brain · 1992 · 171 citations · 0 references
Life SciencesGeneticsMolecular GeneticsDementiaHuman GeneticsPrion DiseasesCreutzfeldt-jakob DiseaseDementia GeneticsFamilial Prion DiseaseGenetic DisordersHuntington DiseaseNeurodegenerative Disease GeneticsAutosomal Dominant InheritanceAutosomal Dominant Prion InheritanceFamilial Prion Disease PhenotypesGene InsertionGenetic Prion Protein MutationsGerstmann SyndromePrion Disease DementiaPrion Disease Pathology
A large family with autosomal dominant segregation of presenile dementia, and other neurological and behavioural features is described. At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, myoclonic epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome. Molecular genetic studies have enabled classification of this disease at the molecular level as one of the group of inherited prion diseases. Here we describe the phenotype of inherited prion disease (PrP 144 bp insertion).