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γ-Aminobutyric acid (GABA), plays a key role in all stages of life, also is considered the main inhibitory neurotransmitter. GABA activates two kind of membrane receptors known as GABAA and GABAB, the first one is responsible to render tonic inhibition ...
Abraham Rosas-Arellano+4 more
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The Neuropsychology of Huntington's Disease [PDF]
Huntington's disease is an inherited, degenerative brain disease, characterized by involuntary movements, cognitive disorder and neuropsychiatric change. Men and women are affected equally. Symptoms emerge at around 40 years, although there is wide variation. A rare juvenile form has onset in childhood or adolescence.
Julie S. Snowden, Julie S. Snowden
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Mitochondria in Huntington's disease
Huntington's disease (HD) is an inherited progressive neurodegenerative disorder associated with involuntary abnormal movements (chorea), cognitive deficits and psychiatric disturbances. The disease is caused by an abnormal expansion of a CAG repeat located in exon 1 of the gene encoding the huntingtin protein (Htt) that confers a toxic function to the
Maria Damiano+6 more
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Report of a family with Huntington's disease
The aim of this article was to analyze the clinical and genetic characteristics of a patient with Huntington's disease and her family. We analyzed the clinical data of a patient with Huntington's disease and her family members in the Department of ...
Zhong Luo+5 more
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Suicidality in Huntington's disease
In Huntington's disease (HD) the risk of suicide is increased. Since suicidality may precede suicide, this study investigates prevalence, clinical associations and predictors of suicidality in HD.Suicidality was investigated in 152 mutation carriers and 56 non-carriers, and was considered present if the score on the item 'suicidal ideation' of the ...
Hubers, A.A.M.+5 more
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Strategies to Investigate Ubiquitination in Huntington's Disease
Many neurodegenerative disorders including Huntington's Disease are hallmarked by intracellular protein aggregates that are decorated by ubiquitin and different ubiquitin ligases and deubiquitinating enzymes. The protein aggregates observed in Huntington'
Karen A. Sap, Eric A. Reits
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Previous studies have shown activation of the immune system and altered immune response in Huntington's disease (HD) gene carriers. Here, we hypothesized that peripheral and central immune responses could be concurrent pathophysiological events and ...
Marios Politis+9 more
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Ataxic Gait in Essential Tremor: A Disease-Associated Feature?
Background: While accumulating evidence suggests that balance and gait impairments are commonly seen in patients with essential tremor (ET), questions remain regarding their prevalence, their relationship with normal aging, whether they are similar to ...
Ashwini K. Rao, Elan D. Louis
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Semantic, phonologic, and verb fluency in Huntington's disease
Verbal fluency tasks have been identified as important indicators of executive functioning impairment in patients with frontal lobe dysfunction. Although the usual evaluation of this ability considers phonologic and semantic criteria, there is some ...
Mariana Jardim Azambuja+4 more
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A Metabolic Study of Huntington's Disease.
BackgroundHuntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers ...
Rajasree Nambron+12 more
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