NR AFBA
AU Haltia,M.; Viitanen,M.; Sulkava,R.; Ala-Hurula,V.; Poyhonen,M.; Goldfarb,L.; Brown,P.; Levy,E.; Houlden,H.; Crook,R.; Goate,A.; Clark,R.; Korenblat,K.; Pandit,S.; Keller,H.D.; Lilius,L.; Liu,L.; Axelman,K.; Forsell,L.; Winblad,B.; Lannfeldt,L.; Hardy,J.
TI Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description.
QU Annals of Neurology 1994 Sep; 36(3): 362-7
KI Ann Neurol. 1994 Sep;36(3):335-6. PMID: 8080240 Ann Neurol. 1995 Mar;37(3):412. PMID: 7741941
PT journal article
AB A family of Finnish descent with very-early-onset Alzheimer's disease has been identified. Genetic analysis of this family eliminated the amyloid precursor protein gene as the pathogenic locus, but strongly implicated a locus on chromosome 14q23.4 between D14S52 and D14S55. The early age at onset of the disease (average, 36 years; range, 35-39 years), the rapid progression, and the early and prominent myoclonus, while they appear to be frequent findings in the chromosome 14-encoded form of Alzheimer's disease, raised the clinical suspicion of prion disease. However, sequencing the prion gene-coding region of 2 affected members of the pedigree failed to show any abnormality. Apart from the presence of modest cortical vacuolar change, the pathological features of our index patient appeared typical of Alzheimer's disease with abundant senile plaques immunoreactive with beta-amyloid, but not with prion protein antibodies.
MH Adult; Alzheimer Disease/*genetics/pathology; Case Report; *Chromosomes, Human, Pair 14; Female; Human; Linkage (Genetics); Lod Score; Male; Pedigree; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.; Time Factors
AD Department of Pathology, University of Helsinki, Finland.
SP englisch
PO USA