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Journal of Huntington's Disease

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https://www.readbyqxmd.com/read/28582868/dynamic-prediction-of-motor-diagnosis-in%C3%A2-huntington-s-disease-using-a-joint-modeling-approach
#1
Kan Li, Erin Furr Stimming, Jane S Paulsen, Sheng Luo
BACKGROUND: Prediction of motor diagnosis in Huntington's disease (HD) can be improved by incorporating other phenotypic and biological clinical measures in addition to cytosine-adenine-guanine (CAG) repeat length and age. OBJECTIVE: The objective was to compare various clinical and biomarker trajectories for tracking HD progression and predicting motor conversion. METHODS: Participants were from the PREDICT-HD study. We constructed a mixed-effect model to describe the change of measures while jointly modeling the process with time to HD diagnosis...
May 31, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550267/amyloid-precursor-protein-haploinsufficiency-preferentially-mediates-brain-iron-accumulation-in-mice-transgenic-for-the-huntington-s-disease-mutation
#2
Kiersten Berggren, Sonal Agrawal, Julia A Fox, Justin Hildenbrand, Ryan Nelson, Ashley I Bush, Jonathan H Fox
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder caused by a CAG expansion in the huntingtin gene that results in expression of mutant huntingtin protein. Iron accumulates in HD brain neurons. Amyloid precursor protein (APP) promotes neuronal iron export. However, the role of APP in brain iron accumulation in HD is unclear. OBJECTIVE: To determine the effects of APP insufficiency on HD in YAC128 mice. METHODS: We crossed APP hemizygous mice (APP+/-) with YAC128 mice that are transgenic (Tg) for human mutant huntingtin (hmHTT) to generate APP+/+ hmHTT-/-, APP+/- hmHTT-/-, APP+/+ hmHTT+/- and APP+/- hmHTT+/- progeny...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550266/assessing-decline-visualising-progression-in-huntington-s-disease-using-a-clinical-dashboard-with-enroll-hd-data
#3
Thomas Walker, Boyd Ghosh, Christopher Kipps
BACKGROUND: In Huntington's disease (HD), it remains unclear how symptom severity and rate of symptomatic change relates to age and CAG repeat number (CAGn). It is often difficult for clinicians to assess whether an affected individual's symptoms are progressing at a similar rate to their affected peers, limiting their ability to intervene at the most appropriate time. OBJECTIVE: To develop a clinical dashboard that compares an individual's total motor score (TMS), total functional capacity (TFC) and symbol digit modality test (SDMT) scores against a global cohort, controlling for age and CAGn...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28482643/female-sexual-dysfunction-in-presymptomatic-mutation-carriers-and-patients-with-huntington-s-disease
#4
Matej Kolenc, Jan Kobal, Simon Podnar
BACKGROUND: Although in Huntington's disease (HD) movement, cognition, and personality are most significantly affected, autonomic dysfunction should not be neglected. In women with HD sexual dysfunction has not been adequately studied yet. OBJECTIVE: To report sexual dysfunction in a systematically studied cohort of female HD patients and compare it with controls of a similar age. METHODS: In female HD patients and presymptomatic HD mutation carriers, we compared the Female Sexual Function Index (FSFI) questionnaire, neurologic assessment using the Unified Huntington's Disease Rating Scale (UHDRS) and the Total Functional Capacity (TFC)...
May 5, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28339401/is-huntingtin-dispensable-in-the-adult-brain
#5
Jeh-Ping Liu, Scott O Zeitlin
Huntingtin (HTT) is an essential protein during early embryogenesis and the development of the central nervous system (CNS). Conditional knock-out of mouse Huntingtin (Htt) expression in the CNS beginning during neural development, as well as reducing Htt expression only during embryonic and early postnatal stages, results in neurodegeneration in the adult brain. These findings suggest that HTT is important for the development and/or maintenance of the CNS, but they do not address the question of whether HTT is required specifically in the adult CNS for its normal functions and/or homeostasis...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28339400/a-systematic-review-of-the-huntington-disease-like-2-phenotype
#6
David G Anderson, Ruth H Walker, Myles Connor, Jonathan Carr, Russell L Margolis, Amanda Krause
BACKGROUND: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. OBJECTIVE: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28339399/early-huntington-s-disease-impulse-control-deficits-but-correct-judgment-regarding-risky-situations
#7
Victor Galvez, Juan Fernandez-Ruiz, Leo Bayliss, Adriana Ochoa-Morales, Carlos R Hernandez-Castillo, Rosalinda Díaz, Aurelio Campos-Romo
BACKGROUND: Huntington's disease (HD) patients show alterations in decision making tasks. However, it is still uncertain if these deficits are due to poor judgment regarding risky situations, or to impulse control deficits. OBJECTIVE: To elucidate whether decision-making in patients is related to genuine risk behavior or to impulse control deficits. METHODS: To test between these two alternative possibilities, we evaluated the performance of 19 prodromal HD patients and 19 matched healthy controls in the Cambridge Gambling Task (CGT)...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28339398/n-terminal-fragments-of-huntingtin-longer-than-residue-170-form-visible-aggregates-independently-to-polyglutamine-expansion
#8
Moore Z Chen, Sue-Ann Mok, Angelique R Ormsby, Paul J Muchowski, Danny M Hatters
BACKGROUND: A hallmark of Huntington's disease is the progressive aggregation of full length and N-terminal fragments of polyglutamine (polyQ)-expanded Huntingtin (Htt) into intracellular inclusions. The production of N-terminal fragments appears important for enabling pathology and aggregation; and hence the direct expression of a variety of N-terminal fragments are commonly used to model HD in animal and cellular models. OBJECTIVE: It remains unclear how the length of the N-terminal fragments relates to polyQ - mediated aggregation...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28304313/the-effect-of-music-therapy-in-patients-with-huntington-s-disease-a-randomized-controlled-trial
#9
Monique C H van Bruggen-Rufi, Annemieke C Vink, Ron Wolterbeek, Wilco P Achterberg, Raymund A C Roos
BACKGROUND: Music therapy may have beneficial effects on improving communication and expressive skills in patients with Huntington's disease (HD). Most studies are, however, small observational studies and methodologically limited. Therefore we conducted a multi-center randomized controlled trial. OBJECTIVE: To determine the efficacy of music therapy in comparison with recreational therapy in improving quality of life of patients with advanced Huntington's disease by means of improving communication...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28211815/generation-and-characterization-of-knock-in-mouse-models-expressing-versions-of-huntingtin-with-either-an-n17-or-a-combined-polyq-and-proline-rich-region-deletion
#10
Emily A André, Elise M Braatz, Jeh-Ping Liu, Scott O Zeitlin
BACKGROUND: The polyglutamine (polyQ) stretch of the Huntingtin protein (HTT) in mammals is flanked by a highly conserved 17 amino acid N-terminal domain (N17), and a proline-rich region (PRR). The PRR is a binding site for many HTT-interacting proteins, and the N17 domain regulates several normal HTT functions, including HTT's ability to associate with membranes and organelles. OBJECTIVE: This study investigates the consequence of deleting mouse Huntingtin's (Htt's) N17 domain or a combination of its polyQ stretch and PRR (QP) on normal Htt function in mice...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28128771/stewarding-hope-the-evolving-landscape-of-huntington-s-disease-science-communications
#11
George J Yohrling, Louise A Vetter
For individuals faced with Huntington's disease (HD), there is no lack of access to information about the newest HD research topics and care trends thanks to social media and online news feeds. Unfortunately, making sense of this volume of information presents a modern challenge to families who are eager to follow every whisper of hope. Scientists with research news to share should be mindful of the dialog in which they are participating and of the hopes that they may be raising as they seek awareness for their work...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28128770/modern-genome-editing-technologies-in-huntington-s-disease-research
#12
Tuyana B Malankhanova, Anastasia A Malakhova, Sergey P Medvedev, Suren M Zakian
The development of new revolutionary technologies for directed gene editing has made it possible to thoroughly model and study NgAgo human diseases at the cellular and molecular levels. Gene editing tools like ZFN, TALEN, CRISPR-based systems, NgAgo and SGN can introduce different modifications. In gene sequences and regulate gene expression in different types of cells including induced pluripotent stem cells (iPSCs). These tools can be successfully used for Huntington's disease (HD) modeling, for example, to generate isogenic cell lines bearing different numbers of CAG repeats or to correct the mutation causing the disease...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983568/author-index-volume-5-2016
#13
(no author information available yet)
No abstract text is available yet for this article.
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983567/upcoming-meetings-related-to%C3%A2-huntington-s-disease
#14
(no author information available yet)
No abstract text is available yet for this article.
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983566/survey-of-the-huntington-s-disease-patient-and-caregiver-community-reveals-most-impactful-symptoms-and-treatment-needs
#15
Jennifer A Simpson, Debra Lovecky, Jane Kogan, Louise A Vetter, George J Yohrling
BACKGROUND: In preparation for a meeting with the U.S. Food and Drug Administration (FDA) on Patient-Focused Drug Development in Huntington's disease, the Huntington's Disease Society of America (HDSA) created and distributed two comprehensive surveys on the symptom experience and treatment approaches for Huntington's disease. OBJECTIVE: The objective of these surveys was to identify the specific symptoms that most impact the daily lives of individuals with Huntington's disease/Juvenile Huntington's disease (HD/JHD) and their caregivers and to solicit input on the types of treatments desired by HD affected families...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983565/lbh589-a-hydroxamic-acid-derived-hdac-inhibitor-is-neuroprotective-in-mouse-models-of-huntington-s-disease
#16
Vanita Chopra, Luisa Quinti, Prarthana Khanna, Paolo Paganetti, Rainer Kuhn, Anne B Young, Aleksey G Kazantsev, Steven Hersch
BACKGROUND: Modulation of gene transcription by HDAC inhibitors has been shown repeatedly to be neuroprotective in cellular, invertebrate, and rodent models of Huntington's disease (HD). It has been difficult to translate these treatments to the clinic, however, because existing compounds have limited potency or brain bioavailability. OBJECTIVE: In the present study, we assessed the therapeutic potential of LBH589, an orally bioavailable hydroxamic acid-derived nonselective HDAC inhibitor in mouse models of HD...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983564/dysregulation-of-corticostriatal-connectivity-in-huntington-s-disease-a%C3%A2-role-for-dopamine-modulation
#17
Claudia Rangel-Barajas, George V Rebec
Aberrant communication between striatum, the main information processing unit of the basal ganglia, and cerebral cortex plays a critical role in the emergence of Huntington's disease (HD), a fatal monogenetic condition that typically strikes in the prime of life. Although both striatum and cortex undergo substantial cell loss over the course of HD, corticostriatal circuits become dysfunctional long before neurons die. Understanding the dysfunction is key to developing effective strategies for treating a progressively worsening triad of motor, cognitive, and psychiatric symptoms...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983563/important-but-not-enough-information-about-hd-related-topics-and-peer-and%C3%A2-professional-support-for-young-adults-from-hd-families
#18
Ulrike Braisch, Saul Martinez-Horta, Marcy MacDonald, Michael Orth
BACKGROUND: The number of people affected by Huntington's disease (HD) is far greater than those with manifest HD because it also includes those at risk, both HD gene mutation carriers and family members not carrying the HD mutation. Many relevant needs of young adults from HD families may not be met at present. This includes advice on important life decisions e.g. family planning and having children, psychological support and treatment of medical conditions. OBJECTIVE: To survey the opinion of young adults from HD families about relevance and availability of information and support regarding several aspects of HD...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983562/plasma-cytokine-levels-in-relation-to%C3%A2-neuropsychiatric-symptoms-and-cognitive-dysfunction-in-huntington-s-disease
#19
Jos A Bouwens, Erik van Duijn, Christa M Cobbaert, Raymund A C Roos, Roos C van der Mast, Erik J Giltay
BACKGROUND: In Huntington's disease (HD) the innate immune system is activated, as reflected by increased plasma levels of different cytokines. OBJECTIVE: To explore whether increased cytokine levels are associated with neuropsychiatric symptoms and cognitive dysfunction in HD mutation carriers. METHOD: Plasma cytokine levels of TNF-alpha, interleukin (IL)-1ra, IL-1β, IL-5, IL-6, IL-8 and Il-10 were assessed in 124 HD mutation carriers at two time points 2 years apart (totalling 214 observations)...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983561/risk-factors-for-suicidal-ideation-in-people-at-risk-for-huntington-s-disease
#20
Karen E Anderson, Shirley Eberly, Mark Groves, Elise Kayson, Karen Marder, Anne B Young, Ira Shoulson
BACKGROUND: Suicidal ideation (SI) and attempts are increased in Huntington's disease (HD), making risk factor assessment a priority. OBJECTIVE: To determine whether, hopelessness, irritability, aggression, anxiety, CAG expansion status, depression, and motor signs/symptoms were associated with Suicidal Ideation (SI) in those at risk for HD. METHODS: Behavioral and neurological data were collected from subjects in an observational study. Subject characteristics were calculated by CAG status and SI...
December 15, 2016: Journal of Huntington's Disease
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