“…Here, we report the generation and characterization of mouse lines bearing homologous knock-in of fALS-associated mutation A315T and sALS-associated mutation N390D, respectively. Remarkably, the heterozygous TDP-43 (N390D/+) mice but not those heterozygous for the TDP-43 (A315T/+) mice develop a full spectrum of ALS-TDP-like pathologies at the molecular, cellular and behavioral levels. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This retrospective cohort study was based on data included in the Smart Advanced Life Support (SALS) registry between January 2016 and December 2017. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: We detected 20 different NEK1 rare variants (four LoF and 16 missense) in 33 unrelated patients with sporadic ALS (sALS). The four LoF variants (two frameshift and two splice-site variants) were all novel. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Recently, mutations in the Fused in sarcoma gene (FUS) were identified in familial (FALS) ALS cases and sporadic (SALS) patients. Similarly to TDP-43 (coded by TARDBP gene), FUS is an RNA binding protein. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Several genes have been linked to both familial (fALS) and sporadic (sALS) cases of ALS. Among all the ALS-related genes, a group of genes known to directly affect cytoskeletal dynamics (ALS2, DCTN1, PFN1, KIF5A, NF-L, NF-H, PRPH, SPAST, and TUBA4A) is of high importance for MN health and survival, considering that MNs are large polarized cells with axons that can reach up to 1 m in length. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Analysis of whole peripheral blood samples obtained from 28 patients suffering from sporadic ALS (sALS), revealed a two-fold increase in the percentage of circulating MDSCs (LIN(−/Low)HLA-DR(−)CD33(+)) compared to controls. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…These abnormal misfolding aggregates or inclusions of SOD1 play a role in the pathogenesis of both forms of ALS, i.e., Sporadic ALS (sALS) and familial ALS (fALS). However, what leads to a decrease in the stability and misfolding of SOD1 is still in question and our scientific knowledge is scarce. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…A structural analysis using small angle light scattering (SALS) revealed that while local regions of highly aligned fibers exist, globally, there is no preferred orientation of fibers and the cerebral DAM can be considered to be structurally isotropic. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Objective: The aim of this study was to measure both plasma and cerebrospinal fluid (CSF) TAR DNA-binding protein 43 (TDP-43) and phosphorylated TDP-43 (pTDP-43) levels in sporadic amyotrophic lateral sclerosis (sALS) patients, and to compare them with that of healthy controls. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The peak onset age of ALS was higher, familial ALS (fALS) cases were slightly more, and the average survival duration of sporadic ALS (sALS) was slightly lower compared with the previous investigation data. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…RESULTS: A total of 1208 patients, including 66 familial ALS (FALS) and 1142 sporadic ALS (SALS) patients were included. Twenty-three patients with sporadic ALS and one familial ALS index had concomitant FTD, which accounts for 1.99% (24/1208) of patients with ALS. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Abbreviations: ALS: amyotrophic lateral sclerosis; Atg: autophagy-related; CHMP2B: charged multivesicular body protein 2B; DPR: dipeptide repeat; FTD: frontotemporal dementia; iPSC: induced pluripotent stem cell; LIR: LC3-interacting region; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; MTOR: mechanistic target of rapamycin kinase; PINK1: PTEN induced kinase 1; RNP: ribonuclear protein; sALS: sporadic ALS; SPHK1: sphingosine kinase 1; TARDBP/TDP-43: TAR DNA binding protein; TBK1: TANK-binding kinase 1; TFEB: transcription factor EB; ULK: unc-51 like autophagy activating kinase; UPR: unfolded protein response; UPS: ubiquitin-proteasome system; VCP: valosin containing protein.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…We found that β4A90I and β4T374I variants, previously shown to associate with reduced risk of smoking, and an additional variant β4D447Y, significantly increased nicotine-evoked current amplitudes, while β4R348C, the mutation most frequently encountered in sporadic amyotrophic lateral sclerosis (sALS), showed reduced nicotine currents. We employed lentiviruses to express β4 or β4 variants in the MHb. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Consistent with these findings, lumbar α-MNs of both sALS as well as fALS patients showed cytoplasmic matrin-3 aggregates which were not co-localized with pTDP-43 aggregates. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…From all manuscripts, only 82.8% ensured the participation of sALS patients. Also, 27.6% of selected studies described the presence of a genetic mutation. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…There are two different types of ALS: Sporadic (sALS), accounts for 90 to 95 percent of all cases, which means the disease seems to occur at random with no clearly associated risk factors and no family history of the disease, and familial (fALS), which is inherited and accounts for 5 to 10 percent of all cases. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The mean of the diagnostic delay of FALS patients is significantly earlier than the sporadic ALS (SALS) patients [9.5 (4.8) vs. 20.3 (9.3) years, p = 0.0026]. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The etiology of sporadic ALS (sALS) is still unknown, limiting the exploration of potential treatments. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…These findings support the hypothesis that sporadic ALS (sALS) can, in part, be triggered by environmental water-quality indicators and lake conditions that promote harmful algal blooms.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The Fifth South African National HIV Prevalence, Incidence, Behaviour and Communication Survey (SABSSM V), collected behavioural and biomarker data from individuals residing in households from 1000 randomly selected Small Area Layers (SALs), across all nine provinces of the country. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso