Article
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
Brain : a journal of neurology - 1 Oct 1999
Mallucci G R, Campbell T A, Dickinson A, Beck J, Holt M, Plant G, de Pauw K W, Hakin R N, Clarke C E, Howell S, Davies-Jones G A, Lawden M, Smith C M, Ince P, Ironside J W, Bridges L R, Dean A, Weeks I, Collinge J
Abstract excerpt
A large English family with autosomal dominant segregation of presenile dementia, ataxia and other neuropsychiatric features is described. Diagnoses of demyelinating disease, Alzheimer's disease, Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker syndrome have been attributed to particular individuals at different times. An Irish family, likely to be part of the same kindred, is also described, in...
Topics
- Adult
- Age of Onset
- Alleles
- Amino Acid Substitution
- Amyloid
- Brain
- Codon
- DNA Mutational Analysis
- Electroencephalography
- England