title: Genetic characterization of a novel familial dementia.
abstract: Clinical and neuropathologic findings from a Danish family in which a dementing illness is segregating as an apparent autosomal dominant disorder were previously described (Gydesen et al. 1987). We present here genetic findings from this family in which linkage analysis has excluded Huntington's disease and chromosome 21-encoded Alzheimer's disease. None of the known prion mutations has been detected in affected individuals from this family. However, linkage analysis with the prion gene has been uninformative. This family probably represents a novel genetic dementia.
authors.affiliation: Department of Biochemistry, St. Mary's Hospital Medical School, London, United Kingdom.
authors.forename: J
authors.initials: J
authors.lastname: Brown
authors.forename: S
authors.initials: S
authors.lastname: Smith
authors.forename: A
authors.initials: A
authors.lastname: Brun
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: S
authors.initials: S
authors.lastname: Gydesen
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: M
authors.initials: M
authors.lastname: Mullan
authors.forename: A
authors.initials: A
authors.lastname: Goate
mesh_terms: D015342:DNA Probes; D003704:Dementia / Q000235:genetics*; D005784:Gene Amplification; D006801:Humans; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D015342:DNA Probes