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Littérature scientifique sur le sujet « SCA28 »

Auteur : Grafiati
Publié le 9 mars 2023
Mis à jour le 10 mars 2023

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Articles de revues sur le sujet "SCA28"

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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, no 8 (25 mars 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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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, no 3 (20 mai 2020) : e428. http://dx.doi.org/10.1212/nxg.0000000000000428.

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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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Politi, Letterio Salvatore, Stefania Bianchi Marzoli, Claudia Godi, Marta Panzeri, Paola Ciasca, Gianluca Brugnara, Anna Castaldo et al. « MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases ». Investigative Opthalmology & ; Visual Science 57, no 6 (19 mai 2016) : 2714. http://dx.doi.org/10.1167/iovs.15-18732.

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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, no 1 (8 décembre 2014) : 263–74. http://dx.doi.org/10.1172/jci74770.

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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, no 4 (7 mars 2010) : 313–21. http://dx.doi.org/10.1038/ng.544.

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Cagnoli, Claudia, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli et al. « SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2 ». Brain 129, no 1 (26 octobre 2005) : 235–42. http://dx.doi.org/10.1093/brain/awh651.

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Szpisjak, Laszlo, Viola L. Nemeth, Noemi Szepfalusi, Denes Zadori, Zoltan Maroti, Tibor Kalmar, Laszlo Vecsei et Peter Klivenyi. « Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation ». Cerebellum 16, no 5-6 (28 juin 2017) : 979–85. http://dx.doi.org/10.1007/s12311-017-0870-9.

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Jia, Dandan, Beisha Tang, Zhao Chen, Yuting Shi, Zhanfang Sun, Li Zhang, Junling Wang, Kun Xia et Hong Jiang. « Spinocerebellar Ataxia Type 28 (SCA28) is an Uncommon Cause of Dominant Ataxia Among Chinese Kindreds ». International Journal of Neuroscience 122, no 10 (26 janvier 2012) : 560–62. http://dx.doi.org/10.3109/00207454.2012.690796.

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Mancini, Cecilia, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Francesca Montarolo, Claudia Cagnoli et al. « Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity ». Neurobiology of Disease 124 (avril 2019) : 14–28. http://dx.doi.org/10.1016/j.nbd.2018.10.018.

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Park, Hyeyoung, Han-Joon Kim et Beom S. Jeon. « Parkinsonism in Spinocerebellar Ataxia ». BioMed Research International 2015 (2015) : 1–11. http://dx.doi.org/10.1155/2015/125273.

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Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide. Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance. Parkinsonism in SCA17 is more remarkable in Asian populations especially in Korea. In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism. SCA3 is more common in western cohorts. SCA6 and SCA8 have also been reported with a PD-like phenotype. Herein, we reviewed the epidemiologic, clinical, genetic, and pathologic features of parkinsonism in SCAs.
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Thèses sur le sujet "SCA28"

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Wöllner, Janine [Verfasser]. « Molekulargenetische Untersuchungen zur dominant vererbten Ataxie SCA28 / Janine Wöllner ». Lübeck : Zentrale Hochschulbibliothek Lübeck, 2012. http://d-nb.info/1026078172/34.

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FRACASSO, VALENTINA. « Functional analysis of AFG3L2 mutations causing spinocerebellar ataxia type 28 (SCA28) ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2011. http://hdl.handle.net/10281/20215.

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Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome. We identified heterozygous missense mutations in five unrelated SCA families and found that AFG3L2 is highly and selectively expressed in human cerebellar Purkinje cells. m-AAA–deficient yeast cells expressing human mutated AFG3L2 homocomplex show respiratory deficiency, proteolytic impairment and deficiency of respiratory chain complex IV. Structure homology modeling indicates that the mutations may affect AFG3L2 substrate handling. This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration.
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MAGRI, STEFANIA. « Functional analysis of m-AAA homo- and heterocomplexes : the role of mitochondrial protein quality control system in spinocerebellar neurodegeneration ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2012. http://hdl.handle.net/10281/29913.

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Autosomal dominant spinocerebellar ataxias (SCA) are a heterogeneous group of neurological disorders characterized by cerebellar dysfunction. We recently showed that AFG3L2 mutations cause dominant ataxia SCA28. AFG3L2 and its partner protein paraplegin, which causes recessive spastic paraparesis SPG7, are components of the m-AAA complex, involved in mitochondrial protein quality control. Since yeast functional studies showed that paraplegin coexpression can modulate AFG3L2 mutations, we investigated the possible coinheritance of AFG3L2 and SPG7 mutations in patients with spinocerebellar syndromes. We identified 3 probands with heterozygous mutations in both the AFG3L2 and the SPG7 genes. Two ataxic patients carry an AFG3L2 mutation affecting highly conserved amino acids located in the ATPase or in the proteolytic domains of the protein along with the parapleginA510V. The third proband carries a de novo AFG3L2 mutation in the highly conserved SRH region of the ATPase domain along with the inherited deletion of SPG7 exons 4-6. The clinical presentation of this patient is characterized by early onset optic atrophy and a L-dopa-responsive spastic-ataxic syndrome with extrapyramidal signs. A muscle biopsy revealed an isolated complex I deficiency. Moreover, evaluation of substrates processing in patient’s fibroblasts showed abnormal processing pattern of OPA1. In conclusion, our data indicate that the presence of a loss-of-function mutation in paraplegin may act as a disease modifier for heterozygous AFG3L2 mutations. Concurrent mutations in both components of the mitochondrial m-AAA complex may result in a complex phenotype, thus expanding the clinical spectrum of AFG3L2-associated mutations. Moreover, biochemical and cell biology studies revealed a crucial role of the m-AAA complex in the processing of OPA1 and the maintenance of mitochondrial morphology.
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Vuillaume, Isabelle. « Identification d'un nouveau locus responsable d'une ataxie spinocérébelleuse héréditaire (SCA21) : approche gène-candidat ». Lille 2, 2003. http://www.theses.fr/2003LIL2MT27.

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Satterfield, Terrence Forrest. « Genetic and biochemical analysis of the Drosophila melanogaster homolog of the human SCA2 gene / ». Thesis, Connect to this title online ; UW restricted, 2005. http://hdl.handle.net/1773/10245.

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Ngwamidiba, Maxime. « Etude moléculaire des gènes SCA1 et SCA2 codant des protéines autotransporteurs chez les membres du genre " rickettsia" ». Aix-Marseille 2, 2006. http://www.theses.fr/2006AIX20660.

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Des analyses d'ADN sur les restes des soldats de la Grande Armée de Napoléon (1812) ont révélé la présence entre autre de Rickettsia prowazekii. Pourtant la rickettsiologie ne commençera qu'avec les travaux de Ricketts et von Prowazek en 1910, et ne cessera de s'alimenter d'espèces et de pathologies nouvelles. En tant que premières bactéries intracellulaires strictes décrites, la taxonomie des rickettsies rassemblait initialement sur la base de ce critère, un grand nombre de genres bactériens ultérieurement reclassés avec l'avènement du séquençage et la découverte d'horloges moléculaires telle que la sous-unité 16S de ARN ribosomique ou le cytochrome C. Pour l'identification des espèces de Rickettsia, de nombreux critères phénotypiques dont la morphologie, les tests de fixation du complément, de neutralisation de toxines, de sérotypage et les profils protéiques ont longtemps été utilisés. Mais c'est la comparaison des séquences de gènes, dont ompA, ompB et sca4, qui ont permis d'identifier très précisément les espèces du genre Rickettsia et de proposer une classification phylogénique fiable. Cependant, la position phylogénique d'espèces telles que Rickettsia helvetica, Rickettsia canadensis et Rickettsia bellii n'a pu être déterminée avec certitude. Aussi, l'analyse basée sur la concaténation de plusieurs gènes, associée aux caractères phénotypiques peut constituer une meilleure alternative
The history of rickettsioses is probably as ancient as human civilisation. The first documented cases of rickettsioses dates back to 1812. In early part of the last century (1910) Ricketts and von Prowazek laid the foundation of modern rickettsiology. Their pioneering works eventually led to the recognition of new species and Rickettsiales infections. As soon as Rickettsia are the first strictly intracellular bacteria described, its taxonomy gathered on the basis of this criterion, and a great number of kinds of bacteria which will be identified only with the advent of the sequencing and the discovery of molecular clocks such as ribosomal 16S RNA and cytochrome C. Many phenotypic criterion such as morphology, tests of complement, neutralization of toxins, mousse serotyping and SDS-page proved reliable. However, gene comparison (ompA, ompB and sca4) will make it possible to very precisely determine the species containing of the genus Rickettsia and to suggest a classification supported by high bootstrap values as well as antibiotics tests. Nevertheless, the phylogenetic position of species such Rickettsia helvetica, Rickettsia canadensis and Rickettsia bellii could not be given with precision, and the polyphasic analysis of the classification of the Rickettsia species based on genes concatenation associated with phenotypic characters available might be alternatives for Rickettsia phylogeny
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Simonin, Clémence. « De la stimulation cérébrale profonde à l’étude physiopathologique de certaines formes génétiques de la Maladie de Parkinson ». Thesis, Lille 2, 2011. http://www.theses.fr/2011LIL2S032/document.

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Objectifs: D’une part étudier les effets de la SCP à moyen et long terme chez les patients de notre centre ayant une forme génétique de MP, d’autre part effectuer une étude clinique, génétique et transcriptomique d’un groupe de patients parkinsoniens ayant une mutation du gène SCA2 (dits patients SCA2).Méthode: 1/ Effet de la SCP chez des patients ayant une forme génétique de MP: cinq patients ayant une forme génétique de MP, appartenant à une cohorte de 52 patients parkinsoniens ayant bénéficié d’une stimulation à haute fréquence du noyau sous-thalamique entre 1998 et 2000, ont été examinés avant la chirurgie puis à 1 et 5 ans. Les patients ont été évalués avec et sans L-dopa par plusieurs échelles: UPDRS II et III,dyskinésies, Schwab et England, Mattis et MADRS. Les résultats ont été comparés aux patients de la même cohorte ayant une forme sporadique de MP.2/ Etude des patients parkinsoniens SCA2 : la description clinique est rapportée rétrospectivement. Les études génétique et transcriptomique ont été effectuées chez 7 patients parkinsoniens et 8 patients cérébelleux SCA2, sur des cellules mononuclées sanguines. Le séquençage de l’ADN a permis de déterminer la longueur de la répétition de triplets CAG et d’identifier les interruptions par des triplets CAA. Le transcriptome de ces patients ainsi que de 13 témoins (sujets sains appariés sur le sexe et l’âge) a été réalisé sur deux plateformes de puces à ADN (Agilent et Illumina). L’analyse de l’expression des gènes chez les patients parkinsoniens et cérébelleux comparés à leurs contrôles respectifs a été réalisée avec le logiciel Genespring GX. Les gènes ayant une expression significativement différente (variation d’expression >1,3 et Welch t-test p< 0,05) ont été analysés à l’aide du logiciel Ingenuity Pathways Analysis qui identifie les voies canoniques significativement dérégulées.Résultats: 1/ Effet de la SCP chez des patients ayant une forme génétique de MP: les résultats de l’ensemble des parkinsoniens étaient comparables à la littérature. Les mouvements involontaires compliquant la dopathérapie s’amélioraient au cours du temps. Les patients ayant une forme génétique bénéficiaient d’un meilleur résultat que les autres parkinsoniens sur les signes dopasensibles et sur les complications dopa-induites.2/ Etude des patients parkinsoniens SCA2 : cliniquement, la MP était tout à fait classique, l’âge moyen de début était de 55,2 ans, tous les patients étaient dopasensibles et les complications typiques de la MP étaient constatées. Le séquençage de l’ADN a montré des expansions légèrement plus longues chez les patients cérébelleux (37-41 triplets) que chez les patients parkinsoniens (35-39). Les patients cérébelleux n’avaient pas d’interruptions CAA sur leur allèle muté. Tous les patients parkinsoniens avaient en revanche une séquence d’interruptions CAA inhabituelle. Pour ce qui concerne l’étude transcriptomique, nous avons constaté chez les patients cérébelleux et chez les parkinsoniens la dérégulation de l’expression de gènes connus pour interagir avec l’ataxine 2 (DDX6, PABP, gènes de la voie du métabolisme des inositol phosphates), ainsi que de gènes impliqués dans le métabolisme du cancer et dans l’immunité. Les patients parkinsoniens avaient un dérèglement des voies de signalisation de la sclérose latérale amyotrophique, du VEGF et de HIF1. Chez ces patients, l’expression de SNCA était diminuée, y compris chez les patients les moinsVIIsymptomatiques, alors qu’elle ne l’était pas chez les cérébelleux. Chez les patients cérébelleux, plusieurs voies concernant le métabolisme des ARN étaient dérégulées, ainsi que le métabolisme du phosphate inositol. Plusieurs voies canoniques impliquant l’apoptose étaient dans les 2 groupes de patients, avec une expression de gènes pro- et antiapoptotiques en faveur de l’apoptose chez les cérébelleux et en sa défaveur chez les parkinsoniens
Objectives: First, to study the mid- and long term effects of DBS in patients with a genetic form of PD from our clinic, and second, to achieve a clinical, genetic and transcriptomic study of a group of parkinsonian patients bearing a mutation in the SCA2 gene (so called SCA2 patients)Methods: 1/ Effects of DBS in patients with a genetic form of PD: five patients with a genetic form of PD, belonging to a cohort of 52 PD patients who underwent a subthalamic nucleus high frequency stimulation between 1998 and 2000, were evaluated before surgery and then after 1 and 5 years with and without L-dopa, using several scales: UPDRS II and III, dyskinesia, Schwab and England, Mattis and MADRS. The results were compared with the patients of the same cohort having a sporadic form of PD. 2/ Study of the parkinsonian SCA2 patients: the clinical picture is related retrospectively. Genetic and transcriptomic studies were performed on blood mononuclear cells from 7 parkinsonian and 8 cerebellar SCA2 patients. DNA sequencing allowed to determine the length of the CAG triplets repeat and to identify the interruptions by CAA triplets. Transcriptomes of these patients and of 13 matched controls (healthy subjects paired according to gender and age) were profiled using 2 platforms of whole human genome expression micro-arrays (Agilent and Illumina). Analyses of differential expression in cerebellar and parkinsonian patients vs their respective controls were performed with GeneSpring GX software. Genes with significant differences (fold change >1.3 and Welch t-test p< 0.05) were analyzed using Ingenuity Pathway Analysis software which identified significantly deregulated canonical pathways.Results: 1/ Effects of DBS in patients with a genetic form of PD: the results concerning the whole cohort of PD patients were similar to the literature. L-dopa-induced involuntary movements improved over time. Patients with a genetic form of PD had a best result than other patients on dopa-responsive signs and dopa-induced complications.2/ study of the parkinsonian SCA2 patients: clinical features were very typical of PD, with a mean age of onset of 55.2 years, a good L-dopa responsiveness, and classical complications of PD. DNA sequencing showed slightly longer expansions in cerebellar (37-41 triplets) than in parkinsonian patients (35-39). Cerebellar patients had no CAA interruption on their mutated allele. All parkinsonian patients had an unusual pattern of CAA interruptions. Concerning the transcriptomic study, cerebellar and parkinsonian patients had a deregulation in the expression of genes known to interact with ataxin-2 (DDX6, PABP, genes in the inositol phosphates metabolism pathway), as well as genes involved in the metabolism of cancer and in immunity. Parkinsonian patients had a deregulation of amyotrophic lateral sclerosis, VEGF and HIF1 signaling pathways. In these patients, including the least symptomatic ones, SNCA expression was down-regulated, whereas it was not in cerebellar patients. In cerebellar patients, several pathways concerning the metabolism or RNAs were deregulated, as well as p53 signaling. Several canonical pathways involving apoptosis were deregulated in both groups of patients, with an expression of pro- and antiapoptotic genes in favor of apoptosis in cerebellar patients and going against apoptosis in parkinsonian patients.
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Emmel, Vanessa Erichsen. « Análise de repetições CAG nos genes SCA1, SCA2, SCA3 e SCA6 em pacientes com suspeita clínica de ataxia espinocerebelar ». reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2007. http://hdl.handle.net/10183/10967.

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As ataxias espinocerebelares (SCAs) são doenças neurodegenerativas com herança autossômica dominante que apresentam grande heterogeneidade clínica e genética. O diagnóstico é realizado pela detecção da mutação no gene causador, que, na sua maioria, é uma expansão de repetições trinucleotídicas CAG. O objetivo deste estudo foi analisar os polimorfismos de repetições trinucleotídicas nos genes associados as SCAs tipo 1, tipo 2, tipo 3 e tipo 6 através de PCR-multiplex e eletroforese capilar, visando a melhoria do diagnóstico molecular e a determinação da distribuição das regiões polimórficas nos alelos normais. As análises foram realizadas em 124 pacientes não-aparentados que apresentavam sintomas de ataxia. Nessa amostra, foram identificados 10 pacientes com SCA2, 39 pacientes com SCA3 e 2 pacientes com SCA6. Não encontramos amostras com uma expansão CAG no gene SCA1. Os polimorfismos de cada loci foram estudados nos cromossomos normais desses pacientes (n=209-248). A freqüência dos alelos normais grandes no locus SCA1 (>32 repetições CAG) foi estabelecida em 0,05 e no locus SCA2 (>22 repetições CAG) foi 0,11, enquanto que no locus SCA3 (alelos >28 repetições) a freqüência foi 0,11. A freqüência de alelos normais grandes para o locus SCA6 (>13 repetições) foi 0,04. Concluindo, este estudo proporcionou a primeira análise detalhada da distribuição de repetições CAG nos loci SCA1, SCA2, SCA3 e SCA6 por amplificação multiplex e eletroforese capilar em pacientes brasileiros. A freqüência dos alelos normais grandes nos genes SCA3 e SCA6 nessa amostra reflete a prevalência destas duas doenças na nossa população, concordando com a hipótese que alelos patogênicos podem ser originados pela expansão de alelos normais grandes.
Spinocerebellar ataxias (SCAs) are neurodegenerative disorders inherited as an autosomal dominant trait that present large genetic and clinical heterogeneity. An accurate diagnosis relies on mutation detection in a specific causative gene, which is typically an abnormal number of CAG trinucleotide repeats. The aim of this study was to analyze polymorphic regions of trinucleotide repeats in SCA1, SCA2, SCA3, and SCA6 associated genes through multiplex PCR and capillary electrophoresis, aiming the improvement of molecular diagnosis and distribution of CAG repeats number in normal alleles. Analyses were carried out in 124 unrelated Brazilian patients who presented symptoms of progressive ataxia. To date, we identified 10 patients with SCA2, 39 patients with SCA3, and 2 patients with SCA6. No alleles were identified with a CAG expansion tract in the SCA1 gene. Normal CAG repeats length range was established using data from normal chromosomes (n=209-248). Frequency of large normal alleles in SCA1 locus (>32 CAG repeats) was determined to be 0.05. Frequency of large normal alleles at the SCA2 locus (>22 CAG repeats) was shown to be 0.11 while at the SCA3 locus (>28 CAG repeats) frequency of large normal alleles was 0.11. At the SCA6 locus, frequency of large normal alleles (>13 CAG repeats) was found to be 0.04. Moreover, this study provides the first detailed analysis, to our knowledge, of the distribution of CAG repeats at the SCA1, SCA2, SCA3, and SCA6 loci by multiplex-PCR and automated capillary electrophoresis in Brazilian patients. Frequency of large normal alleles in SCA3 and SCA6 genes established in this sample reflects the prevalence of these two diseases in our population, supporting the hypothesis that disease alleles emerge from expansion of large normal alleles.
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Harenberg, Levke Gyde [Verfasser]. « Die Bedeutung der Spinozerebellären Ataxie Typ 23 (SCA23) für Ataxie-Patienten aus Deutschland : Screening auf Mutationen im Prodynorphin-Gen (PDYN) / Levke Gyde Harenberg ». Gießen : Universitätsbibliothek, 2015. http://d-nb.info/1078849404/34.

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Socal, Mariana Peixoto. « Genes principais e genes predisponentes à doença de Parkinson : estudo sobre os genes PARK2, PARK6, PARK7, PARK8, SCA1, SCA2, SCA3, SCA6, SCA7 e o gene da glucocerebrosidase ». reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2008. http://hdl.handle.net/10183/16850.

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A doença de Parkinson é freqüente no mundo todo, atingindo indivíduos de todas as idades e etnias. Embora comum e muito estudada, seus mecanismos causais ainda não são plenamente conhecidos e ainda não há tratamento curativo. Atualmente, são conhecidos alguns fatores ambientais e genéticos associados ao desenvolvimento da doença de Parkinson. Dentre os fatores genéticos, foram identificados diversos genes que podem, ou determinar a ocorrência da doença de forma mendeliana (genes principais), ou apenas aumentar o risco de seu surgimento (genes de suscetibilidade). Embora os fatores genéticos, em conjunto, sejam responsáveis por uma minoria dos casos, permanece relevante esta investigação, para promover um aconselhamento genético adequado para os portadores de formas mendelianas, para adequar medidas de tratamento e reconhecer características clínicas e de prognóstico, oportunizando, inclusive, ampliar o entendimento dessa condição. O presente estudo analisou pacientes portadores de doença de Parkinson em acompanhamento no Hospital de Clínicas de Porto Alegre, que apresentavam baixa idade de início dos sintomas, história familiar positiva ou presença de manifestações atípicas da doença. Essas características foram utilizadas como critério de seleção dos pacientes por estarem associadas com maior probabilidade de detecção de causas genéticas. Os pacientes foram submetidos à avaliação clínica e à testagem molecular para diversos genes principais e de suscetibilidade. Foram, posteriormente, comparadas as características clínicas dos pacientes positivos com relação aos demais pacientes estudados. Os resultados são apresentados sob a forma de três artigos, que descrevem, respectivamente, os achados moleculares da investigação para os genes causais autossômicos recessivos (genes PARK2, PARK6, PARK7 e PARK8), autossômicos dominantes (genes SCA1, SCA2, SCA3, SCA6 e SCA7) e o gene de suscetibilidade (gene GBA).
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Chapitres de livres sur le sujet "SCA28"

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Ruiz-Gonzalez, Y., L. Velázquez-Pérez, R. Rodríguez-Labrada, R. Torres-Vega et U. Ziemann. « Role of EMG Rectification for Corticomuscular and Intermuscular Coherence Estimation of Spinocerebellar Ataxia Type 2 (SCA2) ». Dans Progress in Pattern Recognition, Image Analysis, Computer Vision, and Applications, 306–15. Cham : Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-33904-3_28.

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Becerra, Roberto, Gonzalo Joya, Rodolfo Valentin García Bermúdez, Luis Velázquez, Roberto Rodríguez et Carmen Pino. « Saccadic Points Classification Using Multilayer Perceptron and Random Forest Classifiers in EOG Recordings of Patients with Ataxia SCA2 ». Dans Advances in Computational Intelligence, 115–23. Berlin, Heidelberg : Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-38682-4_14.

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Mario, M., et M. Daniele. « SCA27 ». Dans Encyclopedia of Movement Disorders, 91–95. Elsevier, 2010. http://dx.doi.org/10.1016/b978-0-12-374105-9.00241-0.

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Furtado, S. « SCA2 ». Dans Encyclopedia of Movement Disorders, 62–64. Elsevier, 2010. http://dx.doi.org/10.1016/b978-0-12-374105-9.00204-5.

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Koob, M. D. « SCA8 ». Dans Encyclopedia of Movement Disorders, 78–80. Elsevier, 2010. http://dx.doi.org/10.1016/b978-0-12-374105-9.00210-0.

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Pulst, Stefan-M. « Spinocerebellar Ataxia 2 (SCA2) ». Dans Genetics of Movement Disorders, 45–56. Elsevier, 2003. http://dx.doi.org/10.1016/b978-012566652-7/50006-x.

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Koob, Michael D. « Spinocerebellar Ataxia 8 (SCA8) ». Dans Genetics of Movement Disorders, 95–102. Elsevier, 2003. http://dx.doi.org/10.1016/b978-012566652-7/50012-5.

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PULST, STEFAN-M. « Spinocerebellar Ataxia Type 2 (SCA2) ». Dans Animal Models of Movement Disorders, 631–36. Elsevier, 2005. http://dx.doi.org/10.1016/b978-012088382-0/50055-4.

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Pulst, Stefan-M. « Spinocerebellar ataxia type 2 (SCA2) ». Dans Analysis of Triplet Repeat Disorders, 119–28. Garland Science, 2020. http://dx.doi.org/10.1201/9781003076933-7.

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Actes de conférences sur le sujet "SCA28"

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Neveu, Caroline, et Katie Pavoni. « SC28 The use of tiered fidelity in paramedic education ». Dans Abstracts of the Association for Simulated Practice in Healthcare 9th Annual Conference, 13th to 15th November 2018, Southport Theatre and Convention Centre, UK. The Association for Simulated Practice in Healthcare, 2018. http://dx.doi.org/10.1136/bmjstel-2018-aspihconf.51.

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Pflieger, Lance T., Stefan Pulst et Julio C. Facelli. « Characterization of Analytic and Experimental Uncertainty of RNA-seq Co-expression Network Determination : Application to SCA2 ». Dans 2020 IEEE International Conference on Healthcare Informatics (ICHI). IEEE, 2020. http://dx.doi.org/10.1109/ichi48887.2020.9374300.

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Reid-McDermott, Bronwyn, Áine de Bhulbh, Alexander Black, Eoghan O’Connor, Senan Maher et Dara Byrne. « SC28 ‘Simdaver’ – A blended-learning programme using simulation-based education with cadaveric dissection to contextualise anatomy for first year medical students ». Dans Abstracts of the Association of Simulated Practice in Healthcare, 10th Annual Conference, Belfast, UK, 4–6 November 2019. The Association for Simulated Practice in Healthcare, 2019. http://dx.doi.org/10.1136/bmjstel-2019-aspihconf.65.

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