Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging
Frontotemporal involvement has been extensively investigated in amyotrophic lateral sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease (MND) phenotypes such as primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), s...
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doaj-a780ce84d2634259b915115084cc37722021-08-16T06:01:28ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-08-011210.3389/fneur.2021.723450723450Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From NeuroimagingMary Clare McKenna0Philippe Corcia1Philippe Corcia2Philippe Corcia3Philippe Couratier4Philippe Couratier5We Fong Siah6Pierre-Francois Pradat7Peter Bede8Peter Bede9Computational Neuroimaging Group, Trinity College Dublin, Dublin, IrelandDepartment of Neurology-Neurophysiology, CRMR ALS, Tours, FranceUMR 1253 iBrain, University of Tours, Tours, FranceLITORALS, Federation of ALS Centres: Tours-Limoges, Limoges, FranceLITORALS, Federation of ALS Centres: Tours-Limoges, Limoges, FranceALS Centre, Limoges University Hospital (CHU de Limoges), Limoges, FranceComputational Neuroimaging Group, Trinity College Dublin, Dublin, IrelandPitié-Salpêtrière University Hospital, Sorbonne University, Paris, FranceComputational Neuroimaging Group, Trinity College Dublin, Dublin, IrelandPitié-Salpêtrière University Hospital, Sorbonne University, Paris, FranceFrontotemporal involvement has been extensively investigated in amyotrophic lateral sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease (MND) phenotypes such as primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), spinal bulbar muscular atrophy (SBMA), post poliomyelitis syndrome (PPS), and hereditary spastic paraplegia (HSP). This review focuses on insights from structural, metabolic, and functional neuroimaging studies that have advanced our understanding of extra-motor disease burden in these phenotypes. The imaging literature is limited in the majority of these conditions and frontotemporal involvement has been primarily evaluated by neuropsychology and post mortem studies. Existing imaging studies reveal that frontotemporal degeneration can be readily detected in ALS and PLS, varying degree of frontotemporal pathology may be captured in PMA, SBMA, and HSP, SMA exhibits cerebral involvement without regional predilection, and there is limited evidence for cerebral changes in PPS. Our review confirms the heterogeneity extra-motor pathology across the spectrum of MNDs and highlights the role of neuroimaging in characterizing anatomical patterns of disease burden in vivo. Despite the contribution of neuroimaging to MND research, sample size limitations, inclusion bias, attrition rates in longitudinal studies, and methodological constraints need to be carefully considered. Frontotemporal involvement is a quintessential clinical facet of MND which has important implications for screening practices, individualized management strategies, participation in clinical trials, caregiver burden, and resource allocation. The academic relevance of imaging frontotemporal pathology in MND spans from the identification of genetic variants, through the ascertainment of presymptomatic changes to the design of future epidemiology studies.https://www.frontiersin.org/articles/10.3389/fneur.2021.723450/fullALSMNDPLSMRIPETSMA |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mary Clare McKenna Philippe Corcia Philippe Corcia Philippe Corcia Philippe Couratier Philippe Couratier We Fong Siah Pierre-Francois Pradat Peter Bede Peter Bede |
spellingShingle |
Mary Clare McKenna Philippe Corcia Philippe Corcia Philippe Corcia Philippe Couratier Philippe Couratier We Fong Siah Pierre-Francois Pradat Peter Bede Peter Bede Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging Frontiers in Neurology ALS MND PLS MRI PET SMA |
author_facet |
Mary Clare McKenna Philippe Corcia Philippe Corcia Philippe Corcia Philippe Couratier Philippe Couratier We Fong Siah Pierre-Francois Pradat Peter Bede Peter Bede |
author_sort |
Mary Clare McKenna |
title |
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging |
title_short |
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging |
title_full |
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging |
title_fullStr |
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging |
title_full_unstemmed |
Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging |
title_sort |
frontotemporal pathology in motor neuron disease phenotypes: insights from neuroimaging |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Neurology |
issn |
1664-2295 |
publishDate |
2021-08-01 |
description |
Frontotemporal involvement has been extensively investigated in amyotrophic lateral sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease (MND) phenotypes such as primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), spinal bulbar muscular atrophy (SBMA), post poliomyelitis syndrome (PPS), and hereditary spastic paraplegia (HSP). This review focuses on insights from structural, metabolic, and functional neuroimaging studies that have advanced our understanding of extra-motor disease burden in these phenotypes. The imaging literature is limited in the majority of these conditions and frontotemporal involvement has been primarily evaluated by neuropsychology and post mortem studies. Existing imaging studies reveal that frontotemporal degeneration can be readily detected in ALS and PLS, varying degree of frontotemporal pathology may be captured in PMA, SBMA, and HSP, SMA exhibits cerebral involvement without regional predilection, and there is limited evidence for cerebral changes in PPS. Our review confirms the heterogeneity extra-motor pathology across the spectrum of MNDs and highlights the role of neuroimaging in characterizing anatomical patterns of disease burden in vivo. Despite the contribution of neuroimaging to MND research, sample size limitations, inclusion bias, attrition rates in longitudinal studies, and methodological constraints need to be carefully considered. Frontotemporal involvement is a quintessential clinical facet of MND which has important implications for screening practices, individualized management strategies, participation in clinical trials, caregiver burden, and resource allocation. The academic relevance of imaging frontotemporal pathology in MND spans from the identification of genetic variants, through the ascertainment of presymptomatic changes to the design of future epidemiology studies. |
topic |
ALS MND PLS MRI PET SMA |
url |
https://www.frontiersin.org/articles/10.3389/fneur.2021.723450/full |
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