Genetic epidemiology of familial ALS in Brazil

Gonçalves, João Pedro Nunes; Leoni, Tauana Bernardes; Martins, Melina Pazian; Peluzzo, Thiago Mazzo; Dourado, Mário Emílio; Saute, Jonas Alex Morales; Covaleski, Anna Paula Paranhos Miranda; Oliveira, Acary Souza Bullé; Claudino, Rinaldo; Marques, Wilson; Nucci, Anamarli; França, Marcondes C.

doi:10.1016/j.neurobiolaging.2021.01.007

Cited by 19 publications

(12 citation statements)

References 21 publications

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“…differs from European cohorts (Chadi et al, 2017). This mutation was also found in other studies, including patients from southern Brazil (Nunes Gonçalves et al, 2021;Trilico et al, 2020).…”

supporting

confidence: 77%

“…The genetic mutation VAPB causes a type of ALS characterized by significant impairment of lower motor neurons, tremors, autonomic dysfunction, and abdominal protrusion, namely, ALS Type 8 (ALS8; Kosac et al, 2013;Nunes Gonçalves et al, 2021;Trilico et al, 2020). As in sALS, cognitive impairments have been observed in patients with ALS8, which include deficits in cognitive flexibility, processing speed, and inhibitory control (de Alcântara et al, 2019(de Alcântara et al, , 2023.…”

mentioning

confidence: 99%

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Memory for emotional information in sporadic and Type 8 amyotrophic lateral sclerosis.

da Gama,

Queiroz,

de Alcântara

et al. 2024

Neuropsychology

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Objective: Amyotrophic lateral sclerosis (ALS) is often shown to cause episodic memory deficits. Here, we investigated whether such memory deficits are differentially expressed according to the emotional valence of stimuli and whether they are similarly reproduced in both individuals with sporadic ALS (sALS) and familial Type 8 ALS (ALS8). Method: Twenty individuals with sALS, 18 individuals with ALS8, and 19 healthy controls were recruited for the study. After a neuropsychological and psychopathological assessment, all participants responded to a recognition memory test wherein images varying in terms of valence were initially shown. After a short interval, the images were shown again intermixed with new images, and the participants’ task was to indicate whether each image was “old” or “new” and to estimate the confidence in their responses. Results: Both the sALS and the ALS8 groups showed significantly lower recognition of positive relative to negative valence images (d = 0.92 and d = 0.74, respectively), an effect that was completely absent for healthy controls (d = 0.17). These effects were qualified by a significant interaction involving the factors of valence and group (ηp2 = 0.12). Conclusions: The current findings demonstrate that sALS and ALS8 are associated with decreased recognition of emotional information, an effect that is nonetheless restricted to positive valence stimuli.

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supporting

confidence: 77%

mentioning

confidence: 99%

Memory for emotional information in sporadic and Type 8 amyotrophic lateral sclerosis.

da Gama,

Queiroz,

de Alcântara

et al. 2024

Neuropsychology

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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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“…This is similar to Japan, where SOD1 mutations are the most common cause of fALS (29.8%), followed by FUS and TARDBP , whereas C9orf72 expansions are rare, identified in only 1.3% of fALS cases [ 56 ]. In Brazil, the most frequent genetic cause is VAPB (30% of all fALS) followed by C9orf72 (22%) [ 57 ].…”

Section: Evs In Alsmentioning

confidence: 99%

Extracellular Vesicles in Amyotrophic Lateral Sclerosis

McCluskey

Morrison

Donaghy

et al. 2022

Life

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Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease and is the most common adult motor neuron disease. The disease pathogenesis is complex with the perturbation of multiple pathways proposed, including mitochondrial dysfunction, RNA processing, glutamate excitotoxicity, endoplasmic reticulum stress, protein homeostasis and endosomal transport/extracellular vesicle (EV) secretion. EVs are nanoscopic membrane-bound particles that are released from cells, involved in the intercellular communication of proteins, lipids and genetic material, and there is increasing evidence of their role in ALS. After discussing the biogenesis of EVs, we review their roles in the propagation of pathological proteins in ALS, such as TDP-43, SOD1 and FUS, and their contribution to disease pathology. We also discuss the ALS related genes which are involved in EV formation and vesicular trafficking, before considering the EV protein and RNA dysregulation found in ALS and how these have been investigated as potential biomarkers. Finally, we highlight the potential use of EVs as therapeutic agents in ALS, in particular EVs derived from mesenchymal stem cells and EVs as drug delivery vectors for potential treatment strategies.

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Genetic epidemiology of familial ALS in Brazil

Cited by 19 publications

References 21 publications

Memory for emotional information in sporadic and Type 8 amyotrophic lateral sclerosis.

Memory for emotional information in sporadic and Type 8 amyotrophic lateral sclerosis.

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

Extracellular Vesicles in Amyotrophic Lateral Sclerosis

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