title: Long-standing prion dementia manifesting as posterior cortical atrophy.
abstract: Prion diseases commonly manifest with the phenotype of subacute myoclonic encephalopathy. However, genetic forms of prion disease may have prolonged evolution mimicking neurodegenerative disease. We present the clinical and neuropathological features of a family with an early and long-standing dementia manifesting with posterior cortical atrophy and related to a 120 bp insertional mutation of the prion protein gene. Two cases exhibited mixed prion and Aβ pathology. The differential diagnosis with Alzheimer disease is discussed.
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Département de Neurologie, Paris, France. raphael.de-paz@psl.aphp.fr
authors.forename: Raphaël
authors.initials: R
authors.lastname: Depaz
authors.forename: Stéphane
authors.initials: S
authors.lastname: Haik
authors.forename: Katell
authors.initials: K
authors.lastname: Peoc'h
authors.forename: Danielle
authors.initials: D
authors.lastname: Seilhean
authors.forename: David
authors.initials: D
authors.lastname: Grabli
authors.forename: Savine
authors.initials: S
authors.lastname: Vicart
authors.forename: Marie
authors.initials: M
authors.lastname: Sarazin
authors.forename: Bertrand
authors.initials: B
authors.lastname: DeToffol
authors.forename: Catherine
authors.initials: C
authors.lastname: Remy
authors.forename: Catherine
authors.initials: C
authors.lastname: Fallet-Bianco
authors.forename: J L
authors.initials: JL
authors.lastname: Laplanche
authors.forename: Bertrand
authors.initials: B
authors.lastname: Fontaine
authors.forename: Jean Philippe
authors.initials: JP
authors.lastname: Brandel
mesh_terms: D000328:Adult; D001284:Atrophy / Q000235:genetics; D002540:Cerebral Cortex / Q000473:pathology*; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017096:Prion Diseases / Q000235:genetics* / Q000473:pathology; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions