Creutzfeldt-Jakob disease segregating in a three generation Danish family.
A three generation family is presented in which rapidly progressive, early-onset Creutzfeldt-Jakob disease without typical EEG changes segregates as an autosomal dominant disease. An aspartic acid to asparagine mutation at codon 178 of the prion gene, PRNP, co-segregates with the disease. As expected, the disease allele also carries the valine codon of the polymorphic valine/methionine codon 129 of the gene. In family members homozygous for this valine codon the disease was more rapidly progressive than in a heterozygous family member, who had a variant clinical phenotype. Definite neuropathological diagnosis required prion staining with specific antibodies.
Holm
I E
IE
Department of Pathology, Aarhus University Hospital, Denmark.
Abelskov
K
K
Bojsen-Møller
M
M
Nielsen
A L
AL
Jørgensen
A L
AL
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001216:Asparagine; D001224:Aspartic Acid; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D004569:Electroencephalography; D005260:Female; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics* / Q000276:immunology
D011328:Prions; D001224:Aspartic Acid; D001216:Asparagine