Structural brain and spinal cord damage in symptomatic and pre-symptomatic VAPB-related ALS

Leoni, Tauana Bernardes; Rezende, Thiago Junqueira Ribeiro de; Peluzzo, Thiago Mazzo; Martins, Melina Pazian; Neto, Antônio Rodrigues Coimbra; González-Salazar, Carelis; Cruzeiro, Marcelo Maroco; Camargos, Sarah Teixeira; Souza, Leonardo Cruz de; França, Marcondes C.

doi:10.1016/j.jns.2021.120126

Cited by 6 publications

(12 citation statements)

References 32 publications

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“…Patients with ALS8 have predominant lower motor neuron involvement, with symptoms including progressive muscle weakness (mainly in the lower limbs), muscle atrophy, cramp, tremor, fasciculations, pain, abdominal protrusion, autonomic dysfunction (e.g. choking, constipation), and subtle cognitive and behavioural impairments ( Nishimura et al, 2004a , 2004b ; Marques et al, 2006 ; Funke et al, 2010 ; Kosac et al, 2013 ; Di et al, 2016 ; Chadi et al, 2017 ; Sun et al, 2017 ; Guber et al, 2018 ; de Alcântara et al, 2019 ; Trilico et al, 2020 ; Nunes Gonçalves et al, 2021 ; Temp et al, 2021 ; Leoni et al, 2022 ). ALS8’s clinical heterogeneity manifests not only in the symptoms but also in the age of onset (reported at 20–57 years) and the disease progression (rapid [<5 years] to slow [30+ years]).…”

Section: The Role Of Vapb In Neuronal Disordersmentioning

confidence: 99%

VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease

Kors

Costello

Schrader

2022

Front. Cell Dev. Biol.

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Vesicle-associated membrane protein (VAMP)-associated proteins (VAPs) are ubiquitous ER-resident tail-anchored membrane proteins in eukaryotic cells. Their N-terminal major sperm protein (MSP) domain faces the cytosol and allows them to interact with a wide variety of cellular proteins. Therefore, VAP proteins are vital to many cellular processes, including organelle membrane tethering, lipid transfer, autophagy, ion homeostasis and viral defence. Here, we provide a timely overview of the increasing number of VAPA/B binding partners and discuss the role of VAPA/B in maintaining organelle-ER interactions and cooperation. Furthermore, we address how viruses and intracellular bacteria hijack VAPs and their binding partners to induce interactions between the host ER and pathogen-containing compartments and support pathogen replication. Finally, we focus on the role of VAP in human disease and discuss how mutated VAPB leads to the disruption of cellular homeostasis and causes amyotrophic lateral sclerosis.

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Section: The Role Of Vapb In Neuronal Disordersmentioning

confidence: 99%

VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease

Kors

Costello

Schrader

2022

Front. Cell Dev. Biol.

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“…Several studies assessing gray matter (GM) loss in patients with sporadic ALS reported alterations of caudate head ( Agosta et al, 2009 ; Bede et al, 2013 , 2016 , 2018 ; Menke et al, 2014 ; Machts et al, 2015 ; Masuda et al, 2016 ; Senda et al, 2017 ; Alruwaili et al, 2018 ; Christidi et al, 2018b ; Tae et al, 2020 ; Ahmed et al, 2021 ; Canna et al, 2021 ), both in patients with slow and fast disease progression ( Agosta et al, 2009 ; Senda et al, 2017 ), putamen ( Agosta et al, 2009 ; Machts et al, 2015 ; Buhour et al, 2017 ; Kim et al, 2017 ; Bede et al, 2018 ; Christidi et al, 2018a , b ; Tae et al, 2020 ; Ahmed et al, 2021 ; Canna et al, 2021 ), globus pallidus ( Machts et al, 2015 ; Bede et al, 2018 ; Tae et al, 2020 ; Ahmed et al, 2021 ; Canna et al, 2021 ; Castelnovo et al, 2021 ; Leoni et al, 2022 ), accumbens ( Bede et al, 2013 , 2016 , 2018 ; Machts et al, 2015 ; Finegan et al, 2019 ), and thalamus ( Chang et al, 2005 ; Thivard et al, 2007 ; Bede et al, 2013 , 2016 ; Machts et al, 2015 ; Masuda et al, 2016 ; Senda et al, 2017 ; Branco et al, 2018 ; Christidi et al, 2018a ; Menke et al, 2018 ; Tu et al, 2018 ; Finegan et al, 2019 ; Chipika et al, 2020 ; Ahmed et al, 2021 ; Liu et al, 2021 ; Li et al, 2022 ). A recent cross-sectional study, which stratified ALS patients in different disease stages based on the...…”

Section: Resultsmentioning

confidence: 99%

Basal ganglia alterations in amyotrophic lateral sclerosis

et al. 2023

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Amyotrophic lateral sclerosis (ALS) has traditionally been associated with brain damage involving the primary motor cortices and corticospinal tracts. In the recent decades, most of the research studies in ALS have focused on extra-motor and subcortical brain regions. The aim of these studies was to detect additional biomarkers able to support the diagnosis and to predict disease progression. The involvement of the frontal cortices, mainly in ALS cases who develop cognitive and/or behavioral impairment, is amply recognized in the field. A potential involvement of fronto-temporal and fronto-striatal connectivity changes in the disease evolution has also been reported. On this latter regard, there is still a shortage of studies which investigated basal ganglia (BG) alterations and their role in ALS clinical manifestation and progression. The present review aims to provide an overview on the magnetic resonance imaging studies reporting structural and/or functional BG alterations in patients with ALS, to clarify the role of BG damage in the disease clinical evolution and to propose potential future developments in this field.

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“…Patients with ALS8 have predominant lower motor neuron involvement, with symptoms including progressive muscle weakness (mainly in the lower limbs), muscle atrophy, cramp, tremor, fasciculations, pain, abdominal protrusion, autonomic dysfunction (e.g. choking, constipation), and subtle cognitive and behavioural impairments (Nishimura et al, 2004a(Nishimura et al, , 2004bMarques et al, 2006;Funke et al, 2010;Kosac et al, 2013;Di et al, 2016;Chadi et al, 2017;Sun et al, 2017;Guber et al, 2018;de Alcântara et al, 2019;Trilico et al, 2020;Nunes Gonçalves et al, 2021;Temp et al, 2021;Leoni et al, 2022). ALS8's clinical heterogeneity manifests not only in the symptoms but also in the age of onset (reported at 20-57 years) and the disease progression (rapid [<5 years] to slow [30+ years]).…”

Section: Clinical Features Of Amyotrophic Lateral Sclerosis Type 8 (A...mentioning

confidence: 99%

“…Electromyography and muscle/nerve biopsies revealed neurogenic damage with chronic denervation of muscles and reduced numbers of myelinated axons (Nishimura et al, 2004a;Marques et al, 2006;Kosac et al, 2013;Di et al, 2016;Sun et al, 2017;Guo et al, 2020). Additionally, neuroanatomical abnormalities were observed in ALS8 patients, including atrophy in the brainstem, globi pallida and upper cervical spinal cord (Leoni et al, 2022). The reason why VAPB mutations lead specifically to neurodegeneration is not well understood, although VAPB has been found to be highly abundant in motor neurons and different regions of the brain (Teuling et al, 2007;Larroquette et al, 2015;Leoni et al, 2022).…”

Section: Clinical Features Of Amyotrophic Lateral Sclerosis Type 8 (A...mentioning

confidence: 99%

“…Additionally, neuroanatomical abnormalities were observed in ALS8 patients, including atrophy in the brainstem, globi pallida and upper cervical spinal cord (Leoni et al, 2022). The reason why VAPB mutations lead specifically to neurodegeneration is not well understood, although VAPB has been found to be highly abundant in motor neurons and different regions of the brain (Teuling et al, 2007;Larroquette et al, 2015;Leoni et al, 2022).…”

Section: Clinical Features Of Amyotrophic Lateral Sclerosis Type 8 (A...mentioning

confidence: 99%

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Molecular Mechanisms and Physiological Significance of Organelle Interactions and Cooperation - Volume II

2022

Frontiers Research Topics

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Frontiers is more than just an open-access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers Journal SeriesThe Frontiers Journal Series is a multi-tier and interdisciplinary set of open-access, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers Journal Series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to QualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation.

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Structural brain and spinal cord damage in symptomatic and pre-symptomatic VAPB-related ALS

Cited by 6 publications

References 32 publications

VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease

VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease

Basal ganglia alterations in amyotrophic lateral sclerosis

Molecular Mechanisms and Physiological Significance of Organelle Interactions and Cooperation - Volume II

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