Chromosome 14–encoded Alzheimer's disease: Genetic and clinicopathological description

Matti Haltia, Matti Viitanen, Raimo Sulkava, Veli Ala‐Hurula, Minna Poyhonen, Lev Goldfarb, Paul Brown, Efrat Levy, Henry Houlde, Richard Crook, Alison Goate, Robert Clark, Kevin Korenblat, Sunil Pandit, Helen Donis Keller, Lena Llius, Li Liu, Karin Axelman, Lotta Forsell, Bengt WinbladLars Lannfelt, John Hardy

Research output: Contribution to journalArticlepeer-review

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Abstract

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.

Original languageEnglish
Pages (from-to)362-367
Number of pages6
JournalAnnals of neurology
Volume36
Issue number3
DOIs
StatePublished - Sep 1994

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