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Huntingtons disease

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https://www.readbyqxmd.com/read/29222609/evaluating-cognition-in-individuals-with-huntington-disease-neuro-qol-cognitive-functioning-measures
#1
Jin-Shei Lai, Siera Goodnight, Nancy R Downing, Rebecca E Ready, Jane S Paulsen, Anna L Kratz, Julie C Stout, Michael K McCormack, David Cella, Christopher Ross, Jenna Russell, Noelle E Carlozzi
PURPOSE: Cognitive functioning impacts health-related quality of life (HRQOL) for individuals with Huntington disease (HD). The Neuro-QoL includes two patient-reported outcome (PRO) measures of cognition-Executive Function (EF) and General Concerns (GC). These measures have not previously been validated for use in HD. The purpose of this analysis is to evaluate the reliability and validity of the Neuro-QoL Cognitive Function measures for use in HD. METHODS: Five hundred ten individuals with prodromal or manifest HD completed the Neuro-QoL Cognition measures, two other PRO measures of HRQOL (WHODAS 2...
December 8, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/29218782/therapy-development-in-huntington-disease-from-current-strategies-to-emerging-opportunities
#2
REVIEW
Audrey S Dickey, Albert R La Spada
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder in which patients typically present with uncontrolled involuntary movements and subsequent cognitive decline. In 1993, a CAG trinucleotide repeat expansion in the coding region of the huntingtin (HTT) gene was identified as the cause of this disorder. This extended CAG repeat results in production of HTT protein with an expanded polyglutamine tract, leading to pathogenic HTT protein conformers that are resistant to protein turnover, culminating in cellular toxicity and neurodegeneration...
December 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#3
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214414/understanding-the-need-for-assistance-with-survey-completion-in-people-with-huntington-disease
#4
Elizabeth A Hahn, Nancy R Downing, Julie C Stout, Jane S Paulsen, Becky Ready, Siera Goodnight, Jin-Shei Lai, Jennifer A Miner, Noelle E Carlozzi
PURPOSE: In Huntington disease (HD), motor, cognitive, and psychiatric changes can have a detrimental impact on health-related quality of life (HRQOL). The purpose of this paper is to describe the extent and type of assistance needed to complete online HRQOL surveys, and the impact of assistance on HRQOL scores. METHODS: A patient-reported outcome measurement system was developed for HD-specific HRQOL. Individuals across the prodromal and diagnosed disease severity spectrum (n = 532) completed surveys by computer, and reported the amount and type of assistance they received...
December 6, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/29212949/early-pridopidine-treatment-improves-behavioral-and-transcriptional-deficits-in-yac128-huntington-disease-mice
#5
Marta Garcia-Miralles, Michal Geva, Jing Ying Tan, Nur Amirah Binte Mohammad Yusof, Yoonjeong Cha, Rebecca Kusko, Liang Juin Tan, Xiaohong Xu, Iris Grossman, Aric Orbach, Michael R Hayden, Mahmoud A Pouladi
Pridopidine is currently under clinical development for Huntington disease (HD), with on-going studies to better characterize its therapeutic benefit and mode of action. Pridopidine was administered either prior to the appearance of disease phenotypes or in advanced stages of disease in the YAC128 mouse model of HD. In the early treatment cohort, animals received 0, 10, or 30 mg/kg pridopidine for a period of 10.5 months. In the late treatment cohort, animals were treated for 8 weeks with 0 mg/kg or an escalating dose of pridopidine (10 to 30 mg/kg over 3 weeks)...
December 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/29212816/complete-suppression-of-htt-fibrilization-and-disaggregation-of-htt-fibrils-by-a-trimeric-chaperone-complex
#6
Annika Scior, Alexander Buntru, Kristin Arnsburg, Anne Ast, Manuel Iburg, Katrin Juenemann, Maria Lucia Pigazzini, Barbara Mlody, Dmytro Puchkov, Josef Priller, Erich E Wanker, Alessandro Prigione, Janine Kirstein
Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin gene (HTT). Molecular chaperones have been implicated in suppressing or delaying the aggregation of mutant Htt. Using in vitro and in vivo assays, we have identified a trimeric chaperone complex (Hsc70, Hsp110, and J-protein) that completely suppresses fibrilization of HttExon1Q48 The composition of this chaperone complex is variable as recruitment of different chaperone family members forms distinct functional complexes...
December 6, 2017: EMBO Journal
https://www.readbyqxmd.com/read/29212711/ppar%C3%AE-activation-by-bexarotene-promotes-neuroprotection-by-restoring-bioenergetic-and-quality-control-homeostasis
#7
Audrey S Dickey, Dafne N Sanchez, Martin Arreola, Kunal R Sampat, Weiwei Fan, Nicolas Arbez, Sergey Akimov, Michael J Van Kanegan, Kohta Ohnishi, Stephen K Gilmore-Hall, April L Flores, Janice M Nguyen, Nicole Lomas, Cynthia L Hsu, Donald C Lo, Christopher A Ross, Eliezer Masliah, Ronald M Evans, Albert R La Spada
Neurons must maintain protein and mitochondrial quality control for optimal function, an energetically expensive process. The peroxisome proliferator-activated receptors (PPARs) are ligand-activated transcription factors that promote mitochondrial biogenesis and oxidative metabolism. We recently determined that transcriptional dysregulation of PPARδ contributes to Huntington's disease (HD), a progressive neurodegenerative disorder resulting from a CAG-polyglutamine repeat expansion in the huntingtin gene. We documented that the PPARδ agonist KD3010 is an effective therapy for HD in a mouse model...
December 6, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29212017/control-of-huntington-s-disease-associated-phenotypes-by-the-striatum-enriched-transcription-factor-foxp2
#8
Lea J Hachigian, Vitor Carmona, Robert J Fenster, Ruth Kulicke, Adrian Heilbut, Annie Sittler, Luís Pereira de Almeida, Jill P Mesirov, Fan Gao, Eric D Kolaczyk, Myriam Heiman
Alteration of corticostriatal glutamatergic function is an early pathophysiological change associated with Huntington's disease (HD). The factors that regulate the maintenance of corticostriatal glutamatergic synapses post-developmentally are not well understood. Recently, the striatum-enriched transcription factor Foxp2 was implicated in the development of these synapses. Here, we show that, in mice, overexpression of Foxp2 in the adult striatum of two models of HD leads to rescue of HD-associated behaviors, while knockdown of Foxp2 in wild-type mice leads to development of HD-associated behaviors...
December 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/29210869/treatment-of-behavioral-disinhibition-in-huntington-s-disease-with-valproic-acid
#9
William L Whiting, Regina Velasco, Jonathan T Stewart
No abstract text is available yet for this article.
November 28, 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/29209494/rnai-mechanisms-in-huntington-s-disease-therapy-sirna-versus-shrna
#10
REVIEW
Sebastian Aguiar, Bram van der Gaag, Francesco Albert Bosco Cortese
Huntington's Disease (HD) is a genetically dominant trinucleotide repeat disorder resulting from CAG repeats within the Huntingtin (HTT) gene exceeding a normal range (> 36 CAGs). Symptoms of the disease manifest in middle age and include chorea, dystonia, and cognitive decline. Typical latency from diagnosis to death is 20 years. There are currently no disease-modifying therapies available to HD patients. RNAi is a potentially curative therapy for HD. A popular line of research employs siRNA or antisense oligonucleotides (ASO) to knock down mutant Huntingtin mRNA (mHTT)...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29209158/induced-pluripotent-stem-cell-derived-neural-stem-cell-transplantations-reduced-behavioral-deficits-and-ameliorated-neuropathological-changes-in-yac128-mouse-model-of-huntington-s-disease
#11
Abeer Al-Gharaibeh, Rebecca Culver, Andrew N Stewart, Bhairavi Srinageshwar, Kristin Spelde, Laura Frollo, Nivya Kolli, Darren Story, Leela Paladugu, Sarah Anwar, Andrew Crane, Robert Wyse, Panchanan Maiti, Gary L Dunbar, Julien Rossignol
Huntington's disease (HD) is a genetic neurodegenerative disorder characterized by neuronal loss and motor dysfunction. Although there is no effective treatment, stem cell transplantation offers a promising therapeutic strategy, but the safety and efficacy of this approach needs to be optimized. The purpose of this study was to test the potential of intra-striatal transplantation of induced pluripotent stem cell-derived neural stem cells (iPS-NSCs) for treating HD. For this purpose, we developed mouse adenovirus-generated iPSCs, differentiated them into neural stem cells in vitro, labeled them with Hoechst, and transplanted them bilaterally into striata of 10-month old wild type (WT) and HD YAC128 mice...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29209146/adhesion-regulating-molecule-1-mediates-hap40-overexpression-induced-mitochondrial-defects
#12
Zih-Ning Huang, Her Min Chung, Su-Chiung Fang, Lu-Shiun Her
Striatal neuron death in Huntington's disease is associated with abnormal mitochondrial dynamics and functions. However, the mechanisms for this mitochondrial dysregulation remain elusive. Increased accumulation of Huntingtin-associated protein 40 (HAP40) has been shown to be associated with Huntington's disease. However, the link between increased HAP40 and Huntington's disease remains largely unknown. Here we show that HAP40 overexpression causes mitochondrial dysfunction and reduces cell viability in the immortalized mouse striatal neurons...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29208631/the-drosophila-junctophilin-gene-is-functionally-equivalent-to-its-four-mammalian-counterparts-and-is-a-modifier-of-a-huntingtin-poly-q-expansion-and-the-notch-pathway
#13
Eduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, Beatriz Llamusí, Rubén Artero, Carmen Espinós, Máximo I Galindo
Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells with critical implications for human pathophysiology. In mammals this family consists in four members (JPH1-4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles, and neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in CMT2K peripheral neuropathy...
November 20, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29208558/aggregation-of-globular-protein-as-a-consequences-of-macromolecular-crowding-a-time-and-concentration-dependent-study
#14
Gufran Ahmed Siddiqui, Aabgeena Naeem
The living cells show profoundly crowded condition, called as macromolecular crowding. Crowding essentially impacts on protein structure and lead to its aggregation. Protein aggregates have been involved in a wide range of diseases including Parkinson, Alzheimer's, and Huntington's. Increased in normal physiological macromolecular crowding because of increasing age can be implicated as one of the leading cause of proteopathies. In the present study, we have demonstrated the effect of macromolecular crowding on native structure of hemoglobin using bovine serum albumin as a crowding agent...
December 2, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29208474/caenorhabditis-elegans-as-a-model-system-for-target-identification-and-drug-screening-against-neurodegenerative-diseases
#15
REVIEW
Liang Ma, Yudan Zhao, Yuchen Chen, Biao Cheng, Anlin Peng, Kun Huang
Over the past decades, C. elegans has been widely used as a model system because of its small size, transparent body, short generation time and lifespan (~3 days and 3 weeks, respectively), completely sequenced genome and tractability to genetic manipulation. Protein misfolding and aggregation are key pathological features in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease and Amyotrophic lateral sclerosis. Animal models, including Caenorhabditis elegans (C...
December 2, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29207890/artificial-mirnas-reduce-human-mutant-huntingtin-throughout-the-striatum-in-a-transgenic-sheep-model-of-huntington-s-disease
#16
Edith Pfister, Natalie Dinardo, Erica Mondo, Florie Borel, Faith Conroy, Cara Fraser, Gwladys Gernoux, Xin Han, Danjing Hu, Emily Johnson, Lori Kennington, PengPeng Liu, Suzanne Reid, Ellen Sapp, Petr Vodicka, Tim Kuchel, A Jennifer Morton, David Howland, Richard Moser, Miguel Sena-Esteves, Guangping Gao, Christian Mueller, Marian DiFiglia, Neil Aronin
Huntington's disease (HD) is a fatal neurodegenerative disease caused by a genetic expansion of the CAG repeat region in the huntingtin (HTT) gene. Studies in HD mouse models have shown that artificial miRNAs can reduce mutant HTT but evidence for their effectiveness and safety in larger animals is lacking. HD transgenic sheep express the full-length human HTT with 73 CAG repeats. We used AAV9 to unilaterally deliver to HD sheep striatum an artificial miRNA targeting exon 48 of the human HTT mRNA under control of two alternative promoters- U6 or CβA...
December 5, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/29205501/predictive-testing-and-clinical-trials-in-huntington-s-disease-an-ethical-analysis
#17
Cristina Sampaio, Jamie Levey, Robert Klitzman
No abstract text is available yet for this article.
December 4, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29204109/intracellular-cholesterol-trafficking-and-impact-in-neurodegeneration
#18
REVIEW
Fabian Arenas, Carmen Garcia-Ruiz, Jose C Fernandez-Checa
Cholesterol is a critical component of membrane bilayers where it plays key structural and functional roles by regulating the activity of diverse signaling platforms and pathways. Particularly enriched in brain, cholesterol homeostasis in this organ is singular with respect to other tissues and exhibits a heterogeneous regulation in distinct brain cell populations. Due to the key role of cholesterol in brain physiology and function, alterations in cholesterol homeostasis and levels have been linked to brain diseases and neurodegeneration...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29203806/reduced-cell-size-chromosomal-aberration-and-altered-proliferation-rates-are-characteristics-and-confounding-factors-in-the-sthdh-cell-model-of-huntington-disease
#19
Elisabeth Singer, Carolin Walter, Jonasz J Weber, Ann-Christin Krahl, Ulrike A Mau-Holzmann, Nadine Rischert, Olaf Riess, Laura E Clemensson, Huu P Nguyen
Huntington disease is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding the huntingtin protein. Expression of the mutant protein disrupts various intracellular pathways and impairs overall cell function. In particular striatal neurons seem to be most vulnerable to mutant huntingtin-related changes. A well-known and commonly used model to study molecular aspects of Huntington disease are the striatum-derived STHdh cell lines generated from wild type and huntingtin knock-in mouse embryos...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29203718/dnaj-proteins-in-neurodegeneration-essential-and-protective-factors
#20
REVIEW
Christina Zarouchlioti, David A Parfitt, Wenwen Li, Lauren M Gittings, Michael E Cheetham
Maintenance of protein homeostasis is vitally important in post-mitotic cells, particularly neurons. Neurodegenerative diseases such as polyglutamine expansion disorders-like Huntington's disease or spinocerebellar ataxia (SCA), Alzheimer's disease, fronto-temporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease-are often characterized by the presence of inclusions of aggregated protein. Neurons contain complex protein networks dedicated to protein quality control and maintaining protein homeostasis, or proteostasis...
January 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
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