Article
SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.
European journal of neurology - 1 Nov 2022
Cencini Federica, Catania Marcella, Di Fede Giuseppe, Rossi Giacomina, Chalouhi Katia Khouri, Manfredi Chiara, Giaccone Giorgio, Tiraboschi Pietro, Bersano Anna, Groppo Elisabetta, Rosci Chiara, Tancredi Lucia, Campiglio Laura, De Grado Amedeo, Priori Alberto, Scelzo Emma
Abstract excerpt
BACKGROUND AND PURPOSE: Cerebral amyloid angiopathy (CAA) has been associated with a variety of neurodegenerative disorders, included prion diseases and Alzheimer's disease; its pathophysiology is still largely unknown. We report the case of an 80-year-old man with rapidly progressive dementia and neuroimaging features consistent with CAA carrying two genetic defects in the PRNP and SORL1 genes. METHODS:...
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