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

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