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Artículos de revistas sobre el tema "SCA48"

Autor: Grafiati

Publicado: 10 de marzo de 2023

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1

Pakdaman, Yasaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power et al. "Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16". International Journal of Molecular Sciences 22, n.º 11 (30 de mayo de 2021): 5870. http://dx.doi.org/10.3390/ijms22115870.

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Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar cognitive affective syndrome and varying clinical overlap with SCAR16. However, little is known about the molecular properties of dominant STUB1 variants. Here, we describe three SCA48 families with novel, dominantly inherited STUB1 variants (p.Arg51_Ile53delinsProAla, p.Lys143_Trp147del, and p.Gly249Val). All the patients developed symptoms from 30 years of age or later, all had cerebellar atrophy, and 4 had cognitive/psychiatric phenotypes. Investigation of the structural and functional consequences of the recombinant C-terminus of HSC70-interacting protein (CHIP) variants was performed in vitro using ubiquitin ligase activity assay, circular dichroism assay and native polyacrylamide gel electrophoresis. These studies revealed that dominantly and recessively inherited STUB1 variants showed similar biochemical defects, including impaired ubiquitin ligase activity and altered oligomerization properties of the CHIP. Our findings expand the molecular understanding of SCA48 but also mean that assumptions concerning unaffected carriers of recessive STUB1 variants in SCAR16 families must be re-evaluated. More investigations are needed to verify the disease status of SCAR16 heterozygotes and elucidate the molecular relationship between SCA48 and SCAR16 diseases.

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Szpisjak, László, András Salamon, Viola L. Németh, Noémi Szépfalusi, Zoltán Maróti, Tibor Kalmár, Aliz Zimmermann, Dénes Zádori y Péter Klivényi. "Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient". Ideggyógyászati szemle 76, n.º 1-2 (2023): 63–72. http://dx.doi.org/10.18071/isz.76.0063.

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Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have been described in the genetic background of SCA48. The aim of this short report was to demonstrate the first Hungarian SCA48 patient caused by a novel STUB1 missense mutation (c.788G>C, p.Arg263Pro). The characteristics of detailed neurological phenotype, brain MRI and genetic assessment are presented and compared to previously published cases. The most important neurological findings of the patient were gait ataxia, dysarthria, cognitive decline and psychiatric problems including depression, anxiety and mild impulsivity. The brain MRI demonstrated cerebellar atrophy with posterolateral predominance and frontal lobe cortical atrophy. Clinical exome sequencing examination identified the above-mentioned missense variant located in the significant ubiquitinase domain of the CHIP protein. In this paper the first Hungarian SCA48 patient was described with characteristic neuropsychiatric signs and brain MRI abnormalities, due to a novel STUB1 gene missense mutation.

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De Michele, Giovanna, Elena Salvatore, Sirio Cocozza, Alessandro Filla y Filippo M. Santorelli. "Of cognition and cerebellum in SCA48". neurogenetics 21, n.º 2 (3 de febrero de 2020): 145–46. http://dx.doi.org/10.1007/s10048-020-00603-8.

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Mol, Merel O., Jeroen G. J. van Rooij, Esther Brusse, Annemieke J. M. H. Verkerk, Shamiram Melhem, Wilfred F. A. den Dunnen, Patrizia Rizzu, Chiara Cupidi, John C. van Swieten y Laura Donker Kaat. "Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation". Neurology Genetics 6, n.º 3 (23 de marzo de 2020): e417. http://dx.doi.org/10.1212/nxg.0000000000000417.

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ObjectiveTo describe the clinical and pathologic features of a novel pedigree with heterozygous STUB1 mutation causing SCA48.MethodsWe report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and genetic analyses (whole-exome sequencing, whole-genome sequencing, and linkage analysis) were performed on multiple family members.ResultsPatients presented with adult-onset gait disturbance (ataxia or parkinsonism), combined with prominent cognitive decline and behavioral changes. Whole-exome sequencing identified a novel heterozygous frameshift variant c.731_732delGC (p.C244Yfs*24) in STUB1 segregating with the disease. This variant was present in a linkage peak on chromosome 16p13.3. Neuropathologic examination of 3 cases revealed a consistent pattern of ubiquitin/p62-positive neuronal inclusions in the cerebellum, neocortex, and brainstem. In addition, tau pathology was present in 1 case.ConclusionsThis study confirms previous findings of heterozygous STUB1 mutations as the cause of SCA48 and highlights its prominent cognitive involvement, besides cerebellar ataxia and movement disorders as cardinal features. The presence of intranuclear inclusions is a pathologic hallmark of the disease. Future studies will provide more insight into its pathologic heterogeneity.

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Genis, David, Sara Ortega-Cubero, Hector San Nicolás, Jordi Corral, Josep Gardenyes, Laura de Jorge, Eva López et al. "Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)". Neurology 91, n.º 21 (31 de octubre de 2018): e1988-e1998. http://dx.doi.org/10.1212/wnl.0000000000006550.

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ObjectiveTo describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA.MethodsThis is a descriptive study of a family that has been followed for more than a decade with periodic neurologic and neuropsychological examinations, MRI, brain SPECT perfusion, and genetic analysis. Whole exome sequencing was performed in 3 affected and 1 unaffected family member and subsequently validated by linkage analysis of chromosome 16p13.3.ResultsSix patients fully developed cognitive-affective and complete motor cerebellar syndrome associated with vermian and hemispheric cerebellar atrophy, suggesting a continuum from a dysexecutive syndrome slowly evolving to a complete and severe CCAS with late truncal ataxia. Three presymptomatic patients showed focal cerebellar atrophy in the vermian, paravermian, and the medial part of cerebellar lobes VI and VII, suggesting that cerebellar atrophy preceded the ataxia, and that the neurodegeneration begins in cerebellar areas related to cognition and emotion, spreading later to the whole cerebellum. Among the candidate variants, only the frameshift heterozygous c.823_824delCT STUB1 (p.L275Dfs*16) pathogenic variant cosegregated with the disease. The p.L275Dfs*16 heterozygous STUB1 pathogenic variant leads to neurodegeneration and atrophy in cognition- and emotion-related cerebellar areas and reinforces the importance of STUB1 in maintaining cognitive cerebellar function.ConclusionsWe report a heterozygous STUB1 pathogenic genetic variant causing dominant cerebellar ataxia. Since recessive mutations in STUB1 gene have been previously associated with SCAR16, these findings suggest a previously undescribed SCA locus (SCA48; MIM# 618093).

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Palvadeau, R., Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak, G. Genç, M. S. Aygün, O. Falay, A. Nazlı Başak y S. Ertan. "Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family". neurogenetics 21, n.º 1 (19 de noviembre de 2019): 51–58. http://dx.doi.org/10.1007/s10048-019-00595-0.

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Magri, Stefania, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci et al. "Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48". Genetics in Medicine 24, n.º 1 (enero de 2022): 29–40. http://dx.doi.org/10.1016/j.gim.2021.08.003.

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8

Tulli, Susanna, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi et al. "Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation". Journal of Medical Genetics 56, n.º 8 (25 de marzo de 2019): 499–511. http://dx.doi.org/10.1136/jmedgenet-2018-105766.

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BackgroundSpinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m-AAA complexes involved in protein quality control. Objective of this study was to determine the molecular mechanisms of SCA28, which has eluded characterisation to date.MethodsWe derived SCA28 patient fibroblasts carrying different pathogenic variants in the AFG3L2 proteolytic domain (missense: the newly identified p.F664S and p.M666T, p.G671R, p.Y689H and a truncating frameshift p.L556fs) and analysed multiple aspects of mitochondrial physiology. As reference of residual m-AAA activity, we included SPAX5 patient fibroblasts with homozygous p.Y616C pathogenic variant, AFG3L2+/− HEK293 T cells by CRISPR/Cas9-genome editing and Afg3l2−/− murine fibroblasts.ResultsWe found that SCA28 cells carrying missense changes have normal levels of assembled m-AAA complexes, while the cells with a truncating pathogenic variant had only half of this amount. We disclosed inefficient mitochondrial fusion in SCA28 cells caused by increased OPA1 processing operated by hyperactivated OMA1. Notably, we found altered mitochondrial proteostasis to be the trigger of OMA1 activation in SCA28 cells, with pharmacological attenuation of mitochondrial protein synthesis resulting in stabilised levels of OMA1 and OPA1 long forms, which rescued mitochondrial fusion efficiency. Secondary to altered mitochondrial morphology, mitochondrial calcium uptake resulted decreased in SCA28 cells.ConclusionOur data identify the earliest events in SCA28 pathogenesis and open new perspectives for therapy. By identifying similar mitochondrial phenotypes between SCA28 cells and AFG3L2+/− cells, our results support haploinsufficiency as the mechanism for the studied pathogenic variants.

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Patturajan, Meera, Xiangyun Wei, Ronald Berezney y Jeffry L. Corden. "A Nuclear Matrix Protein Interacts with the Phosphorylated C-Terminal Domain of RNA Polymerase II". Molecular and Cellular Biology 18, n.º 4 (1 de abril de 1998): 2406–15. http://dx.doi.org/10.1128/mcb.18.4.2406.

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ABSTRACT Yeast two-hybrid screening has led to the identification of a family of proteins that interact with the repetitive C-terminal repeat domain (CTD) of RNA polymerase II (A. Yuryev et al., Proc. Natl. Acad. Sci. USA 93:6975–6980, 1996). In addition to serine/arginine-rich SR motifs, the SCAFs (SR-like CTD-associated factors) contain discrete CTD-interacting domains. In this paper, we show that the CTD-interacting domain of SCAF8 specifically binds CTD molecules phosphorylated on serines 2 and 5 of the consensus sequence Tyr1Ser2Pro3Thr4Ser5Pro6Ser7. In addition, we demonstrate that SCAF8 associates with hyperphosphorylated but not with hypophosphorylated RNA polymerase II in vitro and in vivo. This result suggests that SCAF8 is not present in preinitiation complexes but rather associates with elongating RNA polymerase II. Immunolocalization studies show that SCAF8 is present in granular nuclear foci which correspond to sites of active transcription. We also provide evidence that SCAF8 foci are associated with the nuclear matrix. A fraction of these sites overlap with a subset of larger nuclear speckles containing phosphorylated polymerase II. Taken together, our results indicate a possible role for SCAF8 in linking transcription and pre-mRNA processing.

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Breuer, Oded, Roopesh Singh Gangwar, Mansour Seaf, Ahlam Barhoum, Eitan Kerem y Francesca Levi-Schaffer. "Evaluation of Soluble CD48 Levels in Patients with Allergic and Nonallergic Asthma in Relation to Markers of Type 2 and Non-Type 2 Immunity: An Observational Study". Journal of Immunology Research 2018 (16 de septiembre de 2018): 1–7. http://dx.doi.org/10.1155/2018/4236263.

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CD48 is a costimulatory receptor associated with human asthma. We aimed to assess the significance of the soluble form of CD48 (sCD48) in allergic and nonallergic asthma. Volunteer patients completed an asthma and allergy questionnaire, spirometry, methacholine challenge test, a common allergen skin prick test, and a complete blood count. sCD48, IgE, IL5, IL17A, IL33, and IFNγ were quantitated in serum by ELISA. Asthma was defined as positive methacholine challenge test or a 15% increase in FEV1 post bronchodilator in symptomatic individuals. Allergy was defined as positive skin test or IgE levels > 200 IU/l in symptomatic individuals. 137 individuals participated in the study: 82 (60%) were diagnosed with asthma of which 53 (64%) was allergic asthma. sCD48 levels were significantly elevated in patients with nonallergic asthma compared to control and to the allergic asthma cohort (median (IQR) pg/ml, 1487 (1338–1758) vs. 1308 (1070–1581), p<0.01, and 1336 (1129–1591), p=0.02, respectively). IL17A, IL33, and IFNγ levels were significantly elevated in allergic and nonallergic asthmatics when compared to control. No correlation was found between sCD48 level and other disease markers. sCD48 is elevated in nonallergic asthma. Additional studies are required for understanding the role of sCD48 in airway disease.

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Han, Fengyue, Dan Su y Chuanqiang Qu. "Spinocerebellar ataxia type 40: A case report and literature review". Translational Neuroscience 12, n.º 1 (1 de enero de 2021): 379–84. http://dx.doi.org/10.1515/tnsci-2020-0190.

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Abstract Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity. The incidence of SCA varies greatly among different subtypes and the case of SCA40 is extremely rare. The aim of this study is to report a rare case of SCA40 and systematically review the incidence, gene mutation, and phenotype of SCAs, especially SCA40.

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K. Prom, Louis. "Frequency of Isolation of Four Fungal Species Colonizing Sorghum Grain Collected from Six Lines in an Anthracnose-Infected Field". Journal of Agriculture and Crops, n.º 91 (11 de enero de 2023): 137–40. http://dx.doi.org/10.32861/jac.91.137.140.

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Sorghum seed mycoflora analysis from six lines grown in an anthracnose infected field was conducted in 2020. Seed samples were collected in July and August, and the frequency of isolation of four grain mold fungi was recorded. In July, seeds collected from SC748 exhibited the highest isolation of Alternaria alternata (40%) while 38% of seeds collected from SC1103-654 and 32% from SC1103-590 also were infected with the pathogen. In August, A. alternata was recovered in 34% of seeds from SC748 and SC265-375. Seeds obtained from RTx430 exhibited the lowest isolation of A. alternata in July and August. In July, Fusarium semitectum was most frequently isolated from BTx623 seeds, followed by SC1103-590 and SC1103-654. Higher recovery of F. semitectum was observed in August, with seeds collected from SC748 exhibiting 55%. In both collection periods, Colletotrichum sublineola was most frequently isolated from anthracnose susceptible lines RTx430 and BTx623 while the resistant SC748 had zero infected seeds. The highest frequency of isolation of Curvularia lunata was recorded from sorghum seeds collected from SC265-375 (20%), followed by SC1103-590 (6%) and 4% from SC748 seeds. This study showed that fungal species once present on the seeds are likely to persist during the growing season at various concentrations. And C. sublineola, causal agent of sorghum anthracnose seemed to be present on/in seeds of susceptible lines, while absent in seeds of the resistant line.

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Manhani, Marianna Nascimento, Cristiane Queixa Tilelli, Vanessa da Silva Ribeiro, Luiz Ricardo Goulart y Julia Maria Costa-Cruz. "Mimotope-based antigens as potential vaccine candidates in experimental murine cysticercosis". Parasitology 147, n.º 12 (14 de julio de 2020): 1330–37. http://dx.doi.org/10.1017/s0031182020001080.

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AbstractHuman cysticercosis is a public health problem caused by Taenia solium metacestodes; thus, eradication of T. solium transmission by vaccination is an urgent requirement. The Cc48 mimotope from T. solium cysticerci was tested expressed in phage particles (mCc48) and chemically synthesized (sCc48) as a vaccine candidate in experimental murine cysticercosis. For this, BALB/c mice were immunized with mCc48 (G1; n = 40), sCc48 (G2; n = 40) and phosphate-buffered saline (PBS) (G3; n = 40, positive control) and challenged with Taenia crassiceps metacestodes. Another PBS group without parasite challenge was used as a negative control (G4; n = 40). Mice were sacrificed 15, 30, 45 and 60 days post-infection for cysticerci and serum collection. Immunization efficacy was determined by cysticerci counting. Serum samples were tested by ELISA to verify antibody (IgM, IgG, IgA and IgE) and cytokine (IFNγ and IL-4) levels. The sCc48 achieved the highest rates of protection and efficacy (90 and 98%, respectively). The group immunized with mCc48 presented the highest reactivity for IgM, IgG and IgE. All groups presented IL-4, but IFNγ was quite variable among groups. The protection induced by sCc48 synthetic peptide supports further studies of this mimotope as a potential vaccine candidate against cysticercosis.

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Pahima, Hadas Tamar, Ilan Zaffran, Amir Jarjoui, Efrat Orenbuch-Harroch, Pratibha Gaur, Ilaria Puxeddu, Carl Zinner, Eli Ben-Chetrit, Alexandar Tzankov y Francesca Levi-Schaffer. "COVID-19 patients are characterized by increased levels of immune cell membrane-bound and soluble CD48". Journal of Immunology 208, n.º 1_Supplement (1 de mayo de 2022): 161.04. http://dx.doi.org/10.4049/jimmunol.208.supp.161.04.

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Abstract COVID-19 is a respiratory-centered systemic disorder caused by the severe acute respiratory syndrome (SARS-CoV-2) virus. The disease can progress into a severe form causing acute lung injury (ALI), mainly diffuse alveolar damage (DAD) with thromboinflammation, immunopathology, and cytokine storm. CD48 is an activating/co-activating receptor expressed on most hematopoietic cells, existing as both membrane-bound (mCD48) and soluble (sCD48) forms. Its high-affinity ligand is 2B4 (CD244). We previously found the mCD48 and sCD48 levels are dysregulated in asthma patients regardless of their atopic status. Therefore, we reasoned that CD48 could be dysregulated in COVID-19 ALI too. CD48 expression was evaluated in tissue sections collected at autopsies of lethal COVID-19 at the first wave (patients not being exposed to high dose dexamethasone), and on peripheral blood leukocytes and in sera of COVID-19 patients by gene expression profiling (autoimmune panel pf HTG), IHC, flow-cytometry and ELISA. Lung tissue of COVID-19 patients showed significantly increased CD48 mRNA expression and infiltration of CD48+ lymphocytes in comparison to other inflammatory conditions (influenza-virus and pneumococcal pneumonia, and non-COVID-19 DAD). In the peripheral blood mCD48 was significantly increased on all the evaluated cells and, additionally, sCD48 levels were significantly higher in COVID-19 patients independent of disease severity. Positive correlation was found between mCD48 levels on monocytes and sCD48 release. Since both mCD48 and sCD48 are significantly increased in COVID-19, a specific a role for CD48 in COVID-19 can be assumed, suggesting it as a potential target for therapy. Supported by Israel Science Foundation Grant no. 3933/19 the Aimwell Charitable Trust (UK), Emalie Gutterman Memorial Endowed Fund for COPD related research (USA)

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Branicka, Olga, Edyta Jura-Szołtys, Barbara Rogala y Joanna Glück. "Elevated Serum Level of CD48 in Patients with Intermittent Allergic Rhinitis". International Archives of Allergy and Immunology 182, n.º 1 (23 de septiembre de 2020): 39–48. http://dx.doi.org/10.1159/000510166.

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<b><i>Background:</i></b> In the pathogenesis of intermittent allergic rhinitis (IAR), the inflammatory reaction is of importance. CD48, belonging to the CD2 family, participates in mast cell-stimulating cross-talk, facilitates the formation of the mast cell/eosinophil effector unit, and is expressed by eosinophils. <b><i>Objectives:</i></b> To assess the serum level of soluble form of CD48 (sCD48) in patients with IAR during and out of the pollen season and correlate with the disease severity and with eosinophil-related parameters. <b><i>Materials and Methods:</i></b> Sixty-three patients (female: 79%; mean age: 30.58) were included to the study. Forty-five patients were assessed during the pollen season and other 42 patients during out of the pollen season. Twenty-four patients (female: 37.50%; mean age: 27.90) were evaluated twice, during the pollen season and out of the pollen season. sCD48, ECP, eotaxin-1/CCL11 serum levels together with complete blood count, and fractional exhaled nitric oxide bronchial and nasal fraction (FeNO) were performed. The severity of symptoms was assessed using the Total Nasal Symptom Score (TNSS), and neutrophil-to-lymphocyte (NLR) and eosinophil-to-lymphocyte (ELR) ratios were calculated. <b><i>Results:</i></b> sCD48 serum level, FeNO nasal and bronchial fractions, and TNSS were significantly higher in the IAR group in the pollen season compared with out of the pollen season. Differences in ECP, eotaxin-1/CCL11 serum levels, and NLR and ELR were not significant between season and out of the season. No correlations were found between sCD48 and eosinophil-related parameters. <b><i>Conclusions:</i></b> sCD48 may be a biomarker to the exacerbation phase in patients with IAR. One can assume that CD48 participates in the pathogenesis of IAR.

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Zu, Tao, Brian Gibbens, Noelle S. Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D. Stone, Jamie Margolis et al. "Non-ATG–initiated translation directed by microsatellite expansions". Proceedings of the National Academy of Sciences 108, n.º 1 (20 de diciembre de 2010): 260–65. http://dx.doi.org/10.1073/pnas.1013343108.

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Trinucleotide expansions cause disease by both protein- and RNA-mediated mechanisms. Unexpectedly, we discovered that CAG expansion constructs express homopolymeric polyglutamine, polyalanine, and polyserine proteins in the absence of an ATG start codon. This repeat-associated non-ATG translation (RAN translation) occurs across long, hairpin-forming repeats in transfected cells or when expansion constructs are integrated into the genome in lentiviral-transduced cells and brains. Additionally, we show that RAN translation across human spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcripts results in the accumulation of SCA8 polyalanine and DM1 polyglutamine expansion proteins in previously established SCA8 and DM1 mouse models and human tissue. These results have implications for understanding fundamental mechanisms of gene expression. Moreover, these toxic, unexpected, homopolymeric proteins now should be considered in pathogenic models of microsatellite disorders.

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Munhoz, Renato P., Hélio A. Teive, Salmo Raskin y André R. Troiano. "Atypical parkinsonism and SCA8". Parkinsonism & Related Disorders 12, n.º 3 (abril de 2006): 191–92. http://dx.doi.org/10.1016/j.parkreldis.2005.10.001.

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Baba, Yasuhiko, Ryan J. Uitti, Matthew J. Farrer y Zbigniew K. Wszolek. "Atypical Parkinsonism and SCA8". Parkinsonism & Related Disorders 12, n.º 6 (septiembre de 2006): 396. http://dx.doi.org/10.1016/j.parkreldis.2006.06.001.

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Hirano, Makito, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura y Susumu Kusunoki. "Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene". Neurology Genetics 4, n.º 4 (agosto de 2018): e252. http://dx.doi.org/10.1212/nxg.0000000000000252.

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ObjectiveTo assess the contribution of noncoding repeat expansions in Japanese patients with amyotrophic lateral sclerosis (ALS).MethodsSporadic ALS in Western countries is frequently associated with noncoding repeat expansions in the C9ORF72 gene. Spinocerebellar ataxia type 8 (SCA8) is another noncoding repeat disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Although the involvement of upper and lower motor neurons in SCA8 has been reported, a positive association between SCA8 and ALS remains unestablished. Spinocerebellar ataxia type 36 is a recently identified disease caused by noncoding repeat expansions in the NOP56 gene and is characterized by motor neuron involvement. We collected blood samples from 102 Japanese patients with sporadic ALS and analyzed the ATXN8OS gene by the PCR–Sanger sequencing method and the C9ORF72 and NOP56 genes by repeat-primed PCR assay.ResultsThree patients with ALS (3%) had mutations in the ATXN8OS gene, whereas no patient had a mutation in the C9ORF72 or NOP56 gene. The mutation-positive patients were clinically characterized by neck weakness or bulbar-predominant symptoms. None of our patients had apparent cerebellar atrophy on MRI, but 2 had nonsymptomatic abnormalities in the white matter or putamen.ConclusionsOur finding reveals the importance of noncoding repeat expansions in Japanese patients with ALS and extends the clinical phenotype of SCA8. Three percent seems small but is still relatively large for Japan, considering that the most commonly mutated genes, including the SOD1 and SQSTM1 genes, only account for 2%–3% of sporadic patients each.

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Liu, Zhen, Sheng Zeng, Junsheng Zeng, Yao Zhou, Xianfeng Zeng, Hong jiang, Lu Shen, Beisha Tang y Junling Wang. "SCA38 is rare in mainland China". Journal of the Neurological Sciences 358, n.º 1-2 (noviembre de 2015): 333–34. http://dx.doi.org/10.1016/j.jns.2015.09.350.

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Kato, K., M. Koyanagi, H. Okada, T. Takanashi, Y. W. Wong, A. F. Williams, K. Okumura y H. Yagita. "CD48 is a counter-receptor for mouse CD2 and is involved in T cell activation." Journal of Experimental Medicine 176, n.º 5 (1 de noviembre de 1992): 1241–49. http://dx.doi.org/10.1084/jem.176.5.1241.

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CD2 is an intercellular adhesion molecule that has been implicated in T cell activation and differentiation both in humans and mice. Although the ligand for human CD2 has been defined as LFA-3, that for murine CD2 has not been identified yet. To identify the ligand for mouse CD2, we generated a chimeric molecule consisting of the extracellular domain of mouse CD2 and human immunoglobulin (Ig)G1 Fc (mCD2Rg). A hamster monoclonal antibody (mAb), HM48-1, was established by screening mAbs that could block the binding of mCD2Rg to T cell lines at the ligand site. The putative mouse CD2 ligand recognized by this mAb was a glycosyl phosphatidylinositol-anchored glycoprotein with an apparent molecular mass of 45 kD, which were shared characteristics with human LFA-3. However, its expression was predominantly restricted to hematopoietic cells, unlike human LFA-3. Protein microsequencing analysis for the NH2-terminal 18 amino acid residues of the affinity-purified HM48-1 antigen revealed that it is almost identical with mouse CD48. This identity was further confirmed by the reactivity of HM48-1 with a soluble recombinant CD48 (sCD48) protein and the molecule recognized by a rat mAb raised against sCD48. A rat anti-CD48 mAb blocked the mCD2Rg binding as well as HM48-1. Moreover, sCD48 also inhibited the mCD2Rg binding to the cellular ligand. Finally, like anti-CD2 mAb, HM48-1 inhibited the phytohemagglutinin response and, when crosslinked, augmented the anti-CD3 response of splenic T cells. These results indicate that CD48 is a ligand for mouse CD2 and is involved in regulating T cell activation.

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Chen, Wei-Lun, Jun-Wei Lin, Hei-Jen Huang, Su-Min Wang, Ming-Tsan Su, Guey-Jen Lee-Chen, Chiung-Mei Chen y Hsiu Mei Hsieh-Li. "SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology". Brain Research 1233 (octubre de 2008): 176–84. http://dx.doi.org/10.1016/j.brainres.2008.07.096.

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Gregersen, Lea H., Richard Mitter, Alejandro P. Ugalde, Takayuki Nojima, Nicholas J. Proudfoot, Reuven Agami, Aengus Stewart y Jesper Q. Svejstrup. "SCAF4 and SCAF8, mRNA Anti-Terminator Proteins". Cell 177, n.º 7 (junio de 2019): 1797–813. http://dx.doi.org/10.1016/j.cell.2019.04.038.

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24

Charif, Majida, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez et al. "Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy". Neurology Genetics 6, n.º 3 (20 de mayo de 2020): e428. http://dx.doi.org/10.1212/nxg.0000000000000428.

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Resumen

ObjectiveTo improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations.MethodsExonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI.ResultsWe identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported.ConclusionsOur results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology.

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25

Kooshki, Habibollah, Gholamreza Goudarzi, Faezeh Faghihi, Zakkyeh Telmadarraiy, Hamideh Edalat y Asadollah Hosseini-chegeni. "The first record of Rickettsia hoogstraalii (Rickettsiales: Rickettsiaceae) from Argas persicus (Acari: Argasidae) in Iran". Systematic and Applied Acarology 25, n.º 9 (14 de septiembre de 2020): 1611–17. http://dx.doi.org/10.11158/saa.25.9.7.

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The rickettsiae (Rickettsiales: Rickettsiaceae) are obligate intracellular and Gram-negative bacteria. They depend on arthropod vector as well as the mammalian host for survival in the nature. 327 soft tick specimens associated the aviary were collected in Khorramabad county of Lorestan province, western Iran. Ticks were identified as Argas persicus according to taxonomical key. Then, 64 tick specimens were analyzed for the presence of rickettsial DNA. Out of 64 specimens, 6 of them were positive and totally three DNA sequences including a single sequence of each ompA, ompB and sca4 genes was obtained from A. persicus ticks. Rickettsia hoogstraalii was detected in Ar. persicus representing the ﬁrst record of this species in Iran. Sca4 gene fragment was unable to specify rickettsial infection in Ar. persicus ticks according to BLAST analysis.

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26

Baba, Yasuhiko, Ryan J. Uitti, Matthew J. Farrer y Zbigniew K. Wszolek. "Sporadic SCA8 mutation resembling corticobasal degeneration". Parkinsonism & Related Disorders 11, n.º 3 (mayo de 2005): 147–50. http://dx.doi.org/10.1016/j.parkreldis.2004.10.008.

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27

Depondt, Chantal, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis y Massimo Pandolfo. "MMEmutation in dominant spinocerebellar ataxia with neuropathy (SCA43)". Neurology Genetics 2, n.º 5 (18 de agosto de 2016): e94. http://dx.doi.org/10.1212/nxg.0000000000000094.

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28

Tonholo Silva, Thiago Y., Augusto B. R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso y Orlando Barsottini. "Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?" Neurology Genetics 7, n.º 3 (26 de marzo de 2021): e581. http://dx.doi.org/10.1212/nxg.0000000000000581.

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29

Borroni, Barbara, Eleonora Di Gregorio, Laura Orsi, Giovanna Vaula, Chiara Costanzi, Filippo Tempia, Nico Mitro et al. "Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)". Parkinsonism & Related Disorders 28 (julio de 2016): 80–86. http://dx.doi.org/10.1016/j.parkreldis.2016.04.030.

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30

Mutsuddi, Mousumi y Ilaria Rebay. "Molecular Genetics of Spinocerebellar Ataxia Type 8 (SCA8)". RNA Biology 2, n.º 2 (abril de 2005): 49–52. http://dx.doi.org/10.4161/rna.2.2.1682.

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31

Sobrido, M. J., J. A. Cholfin, S. Perlman, S. M. Pulst y D. H. Geschwind. "SCA8 repeat expansions in ataxia: A controversial association". Neurology 57, n.º 7 (9 de octubre de 2001): 1310–12. http://dx.doi.org/10.1212/wnl.57.7.1310.

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32

Mosemiller, A. K., J. C. Dalton, J. W. Day y L. P. W. Ranum. "Molecular genetics of spinocerebellar ataxia type 8 (SCA8)". Cytogenetic and Genome Research 100, n.º 1-4 (2003): 175–83. http://dx.doi.org/10.1159/000072852.

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33

Mazarei, G., LA Wagner y BR Leavitt. "Pathogenesis in SCA8 is a two-way street". Clinical Genetics 70, n.º 5 (21 de septiembre de 2006): 382–83. http://dx.doi.org/10.1111/j.1399-0004.2006.0699_1.x.

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34

Maltecca, Francesca, Elisa Baseggio, Francesco Consolato, Davide Mazza, Paola Podini, Samuel M. Young, Ilaria Drago et al. "Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model". Journal of Clinical Investigation 125, n.º 1 (8 de diciembre de 2014): 263–74. http://dx.doi.org/10.1172/jci74770.

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35

Gangwar, R. S. y F. Levi-Schaffer. "sCD48 is anti-inflammatory inStaphylococcus aureusEnterotoxin B-induced eosinophilic inflammation". Allergy 71, n.º 6 (26 de febrero de 2016): 829–39. http://dx.doi.org/10.1111/all.12851.

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36

Gazulla, José, Elvira Orduna-Hospital, Isabel Benavente, Ana Rodríguez-Valle, Pedro Osorio-Caicedo, Sara Alvarez-de Andrés, Elena García-González, Jesús Fraile-Rodrigo, Francisco Javier Fernández-Tirado y José Berciano. "Contributions to the study of spinocerebellar ataxia type 38 (SCA38)". Journal of Neurology 267, n.º 8 (20 de abril de 2020): 2288–95. http://dx.doi.org/10.1007/s00415-020-09840-1.

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37

Roda, Ricardo H., Alice B. Schindler y Craig Blackstone. "SCA8 should not be tested in isolation for ataxia". Neurology Genetics 3, n.º 3 (21 de abril de 2017): e150. http://dx.doi.org/10.1212/nxg.0000000000000150.

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38

Chen, I. C., H. C. Shiau, H. Y. Lin, S. H. Kao, C. M. Chen y G. J. Lee-Chen. "[P100]: Plausible pathogenesis of SCA8 CTG trinucleotide repeats expansion". International Journal of Developmental Neuroscience 24, n.º 8 (16 de noviembre de 2006): 538. http://dx.doi.org/10.1016/j.ijdevneu.2006.09.162.

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39

Tazón, B., C. Badenas, L. Jiménez, E. Muñoz y M. Milà. "SCA8 in the Spanish population including one homozygous patient". Clinical Genetics 62, n.º 5 (noviembre de 2002): 404–9. http://dx.doi.org/10.1034/j.1399-0004.2002.620509.x.

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40

Samukawa, Makoto, Makito Hirano, Kazumasa Saigoh, Shigeru Kawai, Yukihiro Hamada, Daisuke Takahashi, Yusaku Nakamura y Susumu Kusunoki. "PSP-Phenotype in SCA8: Case Report and Systemic Review". Cerebellum 18, n.º 1 (19 de junio de 2018): 76–84. http://dx.doi.org/10.1007/s12311-018-0955-0.

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41

Schöls, Ludger, Ingrid Bauer, Christine Zühlke, Thorsten Schulte, Christina Kölmel, Katrin Bürk, Helge Topka, Peter Bauer, Horst Przuntek y Olaf Riess. "Do CTG expansions at the SCA8 locus cause ataxia?" Annals of Neurology 54, n.º 1 (25 de junio de 2003): 110–15. http://dx.doi.org/10.1002/ana.10608.

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42

Michel, A., F. Laurent, J. Bompart, K. Hadj-Kaddour, J. P. Chapat, M. Boucard y P. A. Bonnet. "Cardiovascular effects of SCA40, a novel potassium channel opener, in rats". British Journal of Pharmacology 110, n.º 3 (noviembre de 1993): 1031–36. http://dx.doi.org/10.1111/j.1476-5381.1993.tb13917.x.

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43

Sulek, Anna, Dorota Hoffman-Zacharska, Elzbieta Zdzienicka y Jacek Zaremba. "SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6". American Journal of Human Genetics 73, n.º 4 (octubre de 2003): 972–74. http://dx.doi.org/10.1086/378524.

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44

Ohnari, Keiko, Masashi Aoki, Takenori Uozumi y Sadatoshi Tsuji. "Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion". Journal of the Neurological Sciences 273, n.º 1-2 (octubre de 2008): 15–18. http://dx.doi.org/10.1016/j.jns.2008.06.003.

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45

Stevanin, Giovanni, Alexandra Herman, Alexandra Dürr, Carla Jodice, Marina Frontali, Yves Agid y Alexis Brice. "Are (CTG)n expansions at the SCA8 locus rare polymorphisms?" Nature Genetics 24, n.º 3 (marzo de 2000): 213. http://dx.doi.org/10.1038/73408.

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46

Lamason, Rebecca L., Effie Bastounis, Natasha M. Kafai, Ricardo Serrano, Juan C. del Álamo, Julie A. Theriot y Matthew D. Welch. "Rickettsia Sca4 Reduces Vinculin-Mediated Intercellular Tension to Promote Spread". Cell 167, n.º 3 (octubre de 2016): 670–83. http://dx.doi.org/10.1016/j.cell.2016.09.023.

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47

Cook, S. J., K. Archer, A. Martin, K. H. Buchheit, J. R. Fozard, T. Müller, A. J. Miller, K. R. F. Elliott, R. W. Foster y R. C. Small. "Further analysis of the mechanisms underlying the tracheal relaxant action of SCA40". British Journal of Pharmacology 114, n.º 1 (enero de 1995): 143–51. http://dx.doi.org/10.1111/j.1476-5381.1995.tb14918.x.

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48

Pocock, Tristan M., Florence Laurent, Lynne M. Isaac, Peter Chiu, Keith R. F. Elliott, Robert W. Foster, Alain Michel, Pierre-Antoine Bonnet y Roger C. Small. "Effects of SCA40 on bovine trachealis muscle and on cyclic nucleotide phosphodiesterases". European Journal of Pharmacology 334, n.º 1 (septiembre de 1997): 75–85. http://dx.doi.org/10.1016/s0014-2999(97)01147-3.

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49

Di Bella, Daniela, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi et al. "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28". Nature Genetics 42, n.º 4 (7 de marzo de 2010): 313–21. http://dx.doi.org/10.1038/ng.544.

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50

Buchheit, K. H., Alfred Hofmann y Hans-Jürgen Pfannkuche. "In vitro and in vivo effects of SCA40 on guinea pig airways". Naunyn-Schmiedeberg's Archives of Pharmacology 355, n.º 2 (27 de enero de 1997): 217–23. http://dx.doi.org/10.1007/pl00004935.

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