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Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism

OBJECTIVE: To explore the roles of striatal subdivisions in the pathogenesis of frontotemporal dementia with parkinsonism (FTDP) in a patient resulting from prion protein gene (PRNP) mutation. METHODS: This patient received clinical interviews and underwent neuropsychological assessments, genetic te...

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Autores principales: Chen, Zhongyun, Ma, Jinghong, Liu, Li, Liu, Shuying, Zhang, Jing, Chu, Min, Wang, Zhen, Chan, Piu, Wu, Liyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9053668/
https://www.ncbi.nlm.nih.gov/pubmed/35493933
http://dx.doi.org/10.3389/fnagi.2022.830602
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author Chen, Zhongyun
Ma, Jinghong
Liu, Li
Liu, Shuying
Zhang, Jing
Chu, Min
Wang, Zhen
Chan, Piu
Wu, Liyong
author_facet Chen, Zhongyun
Ma, Jinghong
Liu, Li
Liu, Shuying
Zhang, Jing
Chu, Min
Wang, Zhen
Chan, Piu
Wu, Liyong
author_sort Chen, Zhongyun
collection PubMed
description OBJECTIVE: To explore the roles of striatal subdivisions in the pathogenesis of frontotemporal dementia with parkinsonism (FTDP) in a patient resulting from prion protein gene (PRNP) mutation. METHODS: This patient received clinical interviews and underwent neuropsychological assessments, genetic testing, [(18)F]-fluorodeoxyglucose positron emission tomography ([(18)F]-FDG PET)/MRI, and [(18)F]-dihydrotetrabenazine positron emission tomography ([(18)F]-DTBZ PET)/CT. Region-of-interest analysis was conducted concerning metabolism, and dopamine transport function between this patient and 12 controls, focusing on the striatum subregions according to the Oxford-GSK-Imanova Striatal Connectivity Atlas. RESULTS: A 64-year-old man initially presented with symptoms of motor dysfunction and subsequently behavioral and personality changes. FTDP was initially suspected. Sequence analysis disclosed a valine to isoleucine at codon 180 in PRNP. Compared to controls, this patient had a severe reduction (> 2SD) of standard uptake value ratio (SUVR) in the limbic and executive subregions but relative retention of metabolism in rostral motor and caudal motor subregions using [(18)F]-FDG PET/MRI, and the SUVR decreased significantly across the striatal in [(18)F]-DTBZ PET/CT, especially in the rostral motor and caudal motor subregions. CONCLUSION: The alteration of frontal striatal loops may be involved in cognitive impairment in FTDP, and the development of parkinsonism in FTDP may be primarily due to the involvement of the presynaptic nigrostriatal loops in PRNP V180I mutation.
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spelling pubmed-90536682022-04-30 Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism Chen, Zhongyun Ma, Jinghong Liu, Li Liu, Shuying Zhang, Jing Chu, Min Wang, Zhen Chan, Piu Wu, Liyong Front Aging Neurosci Neuroscience OBJECTIVE: To explore the roles of striatal subdivisions in the pathogenesis of frontotemporal dementia with parkinsonism (FTDP) in a patient resulting from prion protein gene (PRNP) mutation. METHODS: This patient received clinical interviews and underwent neuropsychological assessments, genetic testing, [(18)F]-fluorodeoxyglucose positron emission tomography ([(18)F]-FDG PET)/MRI, and [(18)F]-dihydrotetrabenazine positron emission tomography ([(18)F]-DTBZ PET)/CT. Region-of-interest analysis was conducted concerning metabolism, and dopamine transport function between this patient and 12 controls, focusing on the striatum subregions according to the Oxford-GSK-Imanova Striatal Connectivity Atlas. RESULTS: A 64-year-old man initially presented with symptoms of motor dysfunction and subsequently behavioral and personality changes. FTDP was initially suspected. Sequence analysis disclosed a valine to isoleucine at codon 180 in PRNP. Compared to controls, this patient had a severe reduction (> 2SD) of standard uptake value ratio (SUVR) in the limbic and executive subregions but relative retention of metabolism in rostral motor and caudal motor subregions using [(18)F]-FDG PET/MRI, and the SUVR decreased significantly across the striatal in [(18)F]-DTBZ PET/CT, especially in the rostral motor and caudal motor subregions. CONCLUSION: The alteration of frontal striatal loops may be involved in cognitive impairment in FTDP, and the development of parkinsonism in FTDP may be primarily due to the involvement of the presynaptic nigrostriatal loops in PRNP V180I mutation. Frontiers Media S.A. 2022-04-15 /pmc/articles/PMC9053668/ /pubmed/35493933 http://dx.doi.org/10.3389/fnagi.2022.830602 Text en Copyright © 2022 Chen, Ma, Liu, Liu, Zhang, Chu, Wang, Chan and Wu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Chen, Zhongyun
Ma, Jinghong
Liu, Li
Liu, Shuying
Zhang, Jing
Chu, Min
Wang, Zhen
Chan, Piu
Wu, Liyong
Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
title Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
title_full Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
title_fullStr Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
title_full_unstemmed Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
title_short Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
title_sort alterations of striatal subregions in a prion protein gene v180i mutation carrier presented as frontotemporal dementia with parkinsonism
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9053668/
https://www.ncbi.nlm.nih.gov/pubmed/35493933
http://dx.doi.org/10.3389/fnagi.2022.830602
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