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In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C

BACKGROUND: 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 als...

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Autores principales: Esposito, Marcello, Dubbioso, Raffaele, Tozza, Stefano, Iodice, Rosa, Aiello, Marco, Nicolai, Emanuele, Cavaliere, Carlo, Salvatore, Marco, Santoro, Lucio, Manganelli, Fiore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895717/
https://www.ncbi.nlm.nih.gov/pubmed/31844711
http://dx.doi.org/10.1016/j.heliyon.2019.e02776
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author Esposito, Marcello
Dubbioso, Raffaele
Tozza, Stefano
Iodice, Rosa
Aiello, Marco
Nicolai, Emanuele
Cavaliere, Carlo
Salvatore, Marco
Santoro, Lucio
Manganelli, Fiore
author_facet Esposito, Marcello
Dubbioso, Raffaele
Tozza, Stefano
Iodice, Rosa
Aiello, Marco
Nicolai, Emanuele
Cavaliere, Carlo
Salvatore, Marco
Santoro, Lucio
Manganelli, Fiore
author_sort Esposito, Marcello
collection PubMed
description BACKGROUND: 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. METHODS: Two sisters affected by NPC and cognitive decline underwent neuropsychological tests, PET scans with (18)F- Florbetaben and neurophysiological protocols to assess cortex excitability by means of transcranial magnetic stimulation (TMS), such as short-latency afferent inhibition (SAI), short-interval intracortical inhibition (SICI) and intracortical facilitation (ICF). RESULTS: Both patients presented a multidomain cognitive impairment. (18)F- Florbetaben uptake was detected in brain frontal areas, while SAI and SICI were abnormal in both patients. DISCUSSION: Cognitive impairment in NPC is associated to cortical amyloid deposition as revealed by (18)F- Florbetaben PET scan. Amyloid imaging data, together with specific abnormalities found at TMS studies, suggest similar mechanisms underlying NPC and AD dementia.
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spelling pubmed-68957172019-12-16 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 Heliyon Article BACKGROUND: 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. METHODS: Two sisters affected by NPC and cognitive decline underwent neuropsychological tests, PET scans with (18)F- Florbetaben and neurophysiological protocols to assess cortex excitability by means of transcranial magnetic stimulation (TMS), such as short-latency afferent inhibition (SAI), short-interval intracortical inhibition (SICI) and intracortical facilitation (ICF). RESULTS: Both patients presented a multidomain cognitive impairment. (18)F- Florbetaben uptake was detected in brain frontal areas, while SAI and SICI were abnormal in both patients. DISCUSSION: Cognitive impairment in NPC is associated to cortical amyloid deposition as revealed by (18)F- Florbetaben PET scan. Amyloid imaging data, together with specific abnormalities found at TMS studies, suggest similar mechanisms underlying NPC and AD dementia. Elsevier 2019-11-14 /pmc/articles/PMC6895717/ /pubmed/31844711 http://dx.doi.org/10.1016/j.heliyon.2019.e02776 Text en © 2019 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Esposito, Marcello
Dubbioso, Raffaele
Tozza, Stefano
Iodice, Rosa
Aiello, Marco
Nicolai, Emanuele
Cavaliere, Carlo
Salvatore, Marco
Santoro, Lucio
Manganelli, Fiore
In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
title In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
title_full In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
title_fullStr In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
title_full_unstemmed In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
title_short In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C
title_sort in vivo evidence of cortical amyloid deposition in the adult form of niemann pick type c
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895717/
https://www.ncbi.nlm.nih.gov/pubmed/31844711
http://dx.doi.org/10.1016/j.heliyon.2019.e02776
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