Niemann Pick disease type C (NPC) is a lysosomal lipid storage disorder presenting visceral and neurological impairment with cognitive decline. Neurodegeneration in NPC is associated to deposition of amyloid-β and abnormal tau aggregations likewise Alzheimer disease (AD). Dementia is also related to intracortical circuiting abnormalities that can be detected by neurophysiological procedures both in NPC and in AD. Aim of this study is to find the in vivo evidence of amyloid deposition in NPC patients with cognitive impairment and to investigate the pathophysiology of dementia according to similarities with AD.
In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C / Esposito, Marcello; Dubbioso, Raffaele; Tozza, Stefano; Iodice, Rosa; Aiello, Marco; Nicolai, Emanuele; Cavaliere, Carlo; Salvatore, Marco; Santoro, Lucio; Manganelli, Fiore. - In: HELIYON. - ISSN 2405-8440. - 5:11(2019), p. e02776. [10.1016/j.heliyon.2019.e02776]
In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
Esposito, Marcello;Dubbioso, Raffaele;Tozza, Stefano;Iodice, Rosa;Aiello, Marco;Cavaliere, Carlo;Santoro, Lucio;Manganelli, Fiore
2019
Abstract
Niemann Pick disease type C (NPC) is a lysosomal lipid storage disorder presenting visceral and neurological impairment with cognitive decline. Neurodegeneration in NPC is associated to deposition of amyloid-β and abnormal tau aggregations likewise Alzheimer disease (AD). Dementia is also related to intracortical circuiting abnormalities that can be detected by neurophysiological procedures both in NPC and in AD. Aim of this study is to find the in vivo evidence of amyloid deposition in NPC patients with cognitive impairment and to investigate the pathophysiology of dementia according to similarities with AD.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.