Huntington Disease
Mostrando 1-12 de 355 artigos, teses e dissertações.
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1. Huntington's disease presenting as mixed state episode
Abstract Background: Thoughts about suicide are quite common in adolescent. While such thoughts can be caused by many reasons, the most well-known of these are mood disorders. There are studies related to coexistence of thyroid pathologies and mood disorders in adult. Objectives: In this study, we aimed to investigate the difference of thyroid hormone leve
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2020-10
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2. Theory of mind impairment in Huntington's disease patients and their relatives
ABSTRACT Huntington disease (HD) is an autosomal dominant genetic disorder characterized by movement disorders, cognitive impairment, and psychiatric symptoms. Relatives of HD patients experience a great burden as the latter suffer from altered social conduct and deterioration of interpersonal relationships. Theory of mind (ToM) is the ability to attribute m
Arq. Neuro-Psiquiatr.. Publicado em: 05/09/2019
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3. Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD
Genet. Mol. Biol.. Publicado em: 27/06/2019
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4. Role of non-coding RNAs in non-aging-related neurological disorders
Protein coding sequences represent only 2% of the human genome. Recent advances have demonstrated that a significant portion of the genome is actively transcribed as non-coding RNA molecules. These non-coding RNAs are emerging as key players in the regulation of biological processes, and act as "fine-tuners" of gene expression. Neurological disorders are cau
Braz J Med Biol Res. Publicado em: 11/06/2018
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5. Evaluating the current state of the art of Huntington disease research: a scientometric analysis
Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers’
Braz J Med Biol Res. Publicado em: 11/01/2018
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6. Are astrocytes executive cells within the central nervous system?
ABSTRACT Experimental evidence suggests that astrocytes play a crucial role in the physiology of the central nervous system (CNS) by modulating synaptic activity and plasticity. Based on what is currently known we postulate that astrocytes are fundamental, along with neurons, for the information processing that takes place within the CNS. On the other hand,
Arq. Neuro-Psiquiatr.. Publicado em: 2016-08
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7. Swallowing endoscopy findings in Huntington's disease: a case report
ABSTRACT Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics
CoDAS. Publicado em: 23/06/2016
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8. Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy
Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M – in a Portuguese sample. Methods: This cross-sectional study included 203 pa
Rev. Bras. Psiquiatr.. Publicado em: 05/02/2016
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9. Thalamic metabolic abnormalities in patients with Huntington's disease measured by magnetic resonance spectroscopy
Huntington's disease (HD) is a neurologic disorder that is not completely understood; its fundamental physiological mechanisms and chemical effects remain somewhat unclear. Among these uncertainties, we can highlight information about the concentrations of brain metabolites, which have been widely discussed. Concentration differences in affected, compared to
Braz J Med Biol Res. Publicado em: 13/08/2013
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10. Animal models of neurodegenerative diseases
The prevalence of neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease (PD), increases with age, and the number of affected patients is expected to increase worldwide in the next decades. Accurately understanding the etiopathogenic mechanisms of these diseases is a crucial step for developing disease-modifying drugs able to pr
Rev. Bras. Psiquiatr.. Publicado em: 2013
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11. Huntington disease : Dna analysis in brazilian population / Doença de Huntington: análise de DNA na população brasileira
A doença de Huntington (DH) está associada a expansões da seqüência repetitiva de trinucleotídeos CAG no gene HD. Através de análise do número de repetições CAG em indivíduos brasileiros, amostras de 92 indivíduos-controle não afetados pela DH, 44 pacientes com DH e 40 indivíduos de 6 famílias com a DH, demonstrou-se a presença de repetiçõ
Publicado em: 2010
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12. Efeitos da administração intraestriatal aguda de ácido quinolítico sobre o citoesqueleto de células neurais de ratos
In the present study we investigated the effect of in vivo intrastriatal injection of quinolinic acid (QA) on rat cytoskeleton proteins in astrocytes and neurons of young rats at early stages (30 min) after infusion. Intrastriatal QA injection is an excitotoxic model of Huntington´s Disease (HD). Results showed that QA (150¿mol/0.5¿L) significantly increa
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2010