1,721,124 research outputs found
Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cells.
No full textHuntington's Disease (HD) is caused by trinucleotide CAG repeat expansion >36 in huntingtin (htt), a protein with several documented functions. The elongated polyglutamine (polyQ) stretch in the N-terminal region of htt leads to dysfunctional and degenerative events in neurons and peripheral tissues. In this study, by extending the analysis to several caspase activities (i.e. caspase 2, 3, 6, 8 and 9), we describe genotype- and time- dependent caspase activity abnormalities, decreased cell viability and a large set of alterations in mitochondria morphology, in cultured blood cells from HD patients. Patients homozygous for CAG repeat mutations and heterozygous with high size mutations causing juvenile onset (JHD) presented significantly increased caspase 2, 3, 6, 8 and 9 activities, decreased cell viability and pronounced morphological abnormalities, compared with cells carrying low mutation size and controls. After cyanide treatment, all caspases increased their activities in homozygous and highly expanded heterozygous cells, caspase 8 and 9 increased also in those cells carrying low-size mutations, remarking their key role as 'caspase initiators' in HD. The remarkable ageing-dependent abnormalities in peripheral cells carrying particularly toxic mutations (i.e. homozygotes' and JHD's blood cells) points out the potential dependence of clinical HD development and progression on either mutated htt dosage or missing wild type htt. Peripheral tissues (i.e. blood cells) may theoretically represent an important tool for studying HD mechanisms and searching for new biomarkers, according to the patients' genotype
Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy
No full textHuntington disease (HD) prevalence shows geographic variability and has been recently updated by taking into account the mutation diagnostic test. In Italy, the last epidemiological estimation was reported well before the HTT gene discovery and the availability of the corresponding genetic test. It reported a prevalence of affected subjects ranging between 2.3 and 4.8/100,000 in some restricted areas of Northern Italy. We have performed a service-based epidemiological analysis in a very restricted geographic area named Molise, where our institutions currently operate and represent the only point of reference for rare neuropsychiatric diseases. The estimated prevalence rate found was 10.85/100,000 (95% confidence interval (CI): 7.20-14.50), remarkably higher than that previously described before the gene test analysis was available, and expected to an increase of an additional 17% by 2030, because of Italian population aging. According to our analysis, we estimate that about 6500 subjects are currently affected by HD in Italy, and that this number will further increase in the next decades because of population aging, variable phenotype penetrance and improved life expectancy
Exploring emotion regulation and emotion recognition in people with presymptomatic Huntington's disease: the role of emotional awareness
No full textEmotion recognition and inhibitory control in manifest and pre-manifest Huntington's disease: evidence from a new Stroop task
Full text linkObjective: This study was aimed at testing two hypotheses suggested by previous research with a new Stroop task created for the purpose: 1) the impairment of emotion recognition in Huntington disease (HD) is moderated by the emotions’ valence, and 2) inhibitory control is impaired in HD. Method: 40 manifest and 20 pre-manifest HD patients and their age- and gender-matched controls completed both the traditional “Stroop Color and Word Test” (SCWT) and the newly created “Stroop Emotion Recognition under Word Interference Task” (SERWIT), which consist in 120 photographs of sad, calm, or happy faces with either congruent or incongruent word interference. Results: On the SERWIT, impaired emotion recognition in manifest HD was moderated by emotion type, with deficits being larger in recognizing sadness and calmness than in recognizing happiness, but it was not moderated by stimulus congruency. On the SCWT, six different interference scores yielded as many different patterns of group effects. Conclusions: Overall our results corroborate the hypothesis that impaired emotion recognition in HD is moderated by the emotions’ valence, but don’t provide evidence for the hypothesis that inhibitory control is impaired in HD. Further research is needed to learn more about the psychological mechanisms underlying the moderating effect of emotional valence on impaired emotion recognition in HD, and to corroborate the hypothesis that the inhibitory processes involved in Stroop tasks are not impaired in HD. Looking beyond this study, the SERWIT promises to make important contributions to disentangling the cognitive and the psychomotor aspects of neurological disorders
Correction to: Validity of the Italian multiple sclerosis neuropsychological screening questionnaire (Neurological Sciences, (2021), 42, 11, (4583-4589), 10.1007/s10072-021-05141-1)
No full textThe original article contains an error in author name. In the published article, author name Girolama Alessandra Marfia was incorrectly captured as GirolamaAlessandraAlessandra Alessandra Marfia. Author name is corrected above. The original article has been corrected
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations..
No full textThe past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM) with the identification of the CCM1, CCM2, and CCM3 genes. Recently, we have recruited a patient with an X/3 balanced translocation that exhibits CCM. By fluorescent in situ hybridization analysis, sequence analysis tools and database mining procedures, we refined the critical region to an interval of 200-kb and identified the interrupted ZPLD1 gene. We detected that the mRNA expression level of ZPLD1 gene is consistently decreased 2.5-fold versus control (P=0.0006) with allelic loss of gene expression suggesting that this protein may be part of the complex signaling pathway implicated in CCM formation. (C) 2008 IBRO. Published by Elsevier Ltd. All rights reserved
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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