journal
MENU ▼
Read by QxMD icon Read
search

Journal of Huntington's Disease

journal
https://www.readbyqxmd.com/read/28339401/is-huntingtin-dispensable-in-the-adult-brain
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
(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
#10
(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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/27983560/targeting-the-cholinergic-system-to-develop-a-novel-therapy-for-huntington-s-disease
#17
Gary X D'Souza, Henry J Waldvogel
In this review, we outline the role of the cholinergic system in Huntington's disease, and briefly describe the dysfunction of cholinergic transmission, cholinergic neurons, cholinergic receptors and cholinergic survival factors observed in post-mortem human brains and animal models of Huntington's disease. We postulate how the dysfunctional cholinergic system can be targeted to develop novel therapies for Huntington's disease, and discuss the beneficial effects of cholinergic therapies in pre-clinical and clinical studies...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27983559/phenotype-characterization-of-hd-intermediate-alleles-in-predict-hd
#18
Nancy R Downing, Spencer Lourens, Isabella De Soriano, Jeffrey D Long, Jane S Paulsen
BACKGROUND: Huntington disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion on chromosome 4. Pathology is associated with CAG repeat length. Prior studies examining people in the intermediate allele (IA) range found subtle differences in motor, cognitive, and behavioral domains compared to controls. OBJECTIVE: The purpose of this study was to examine baseline and longitudinal differences in motor, cognitive, behavioral, functional, and imaging outcomes between persons with CAG repeats in three ranges: normal (≤26), intermediate (27-35), and reduced penetrance (36-39)...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27886014/embryonic-mutant-huntingtin-aggregate-formation-in-mouse-models-of-huntington-s-disease
#19
Alexander P Osmand, Terry Jo Bichell, Aaron B Bowman, Gillian P Bates
The role of aggregate formation in the pathophysiology of Huntington's disease (HD) remains uncertain. However, the temporal appearance of aggregates tends to correlate with the onset of symptoms and the numbers of neuropil aggregates correlate with the progression of clinical disease. Using highly sensitive immunohistochemical methods we have detected the appearance of diffuse aggregates during embryonic development in the R6/2 and YAC128 mouse models of HD. These are initially seen in developing axonal tracts and appear to spread throughout the cerebrum in the early neonate...
December 15, 2016: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/27716680/comparison-of-huntington-s-disease-cag-repeat-length-stability-in-human-motor-cortex-and-cingulate-gyrus
#20
Fiona C A Geraerts, Russell G Snell, Richard L M Faull, Liam Williams, Jessie C Jacobsen, Suzanne J Reid
Huntington's disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele...
October 1, 2016: Journal of Huntington's Disease
journal
journal
44141
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"