Rapidly progressive dementia with early onset associated with the I143T mutation in the PSEN1 gene: a clinical case in a family from Russia

Abstract

Rapidly progressive dementias are a rare group of cognitive disorders that primarily require the exclusion of a large number of potentially reversible causes. Prion diseases are frequent in this group of disorders. Some hereditary forms of Alzheimer's disease can also be aggressive, with onset at a young age and autosomal dominant inheritance in the family. The article presents the first case report of a patient with a verified Ile143Thr mutation in the PSEN1 gene in a Russian family with a phenotype similar to the hereditary form of Creutzfeldt–Jakob disease. The specific features of the disease, diagnostic methods, and possible pathogenesis of the development are discussed.