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Journal of Huntington's Disease

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...
February 16, 2017: Journal of Huntington's Disease
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...
January 24, 2017: Journal of Huntington's Disease
Tuyana Bairovna Malankhanova, Anastasia Aleksandrovna Malakhova, Sergey Petrovich Medvedev, Suren Minasovich Zakian
The development of new revolutionary technologies for directed gene editing has made it possible to thoroughly model and study 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...
January 24, 2017: Journal of Huntington's Disease
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No abstract text is available yet for this article.
December 15, 2016: Journal of Huntington's Disease
(no author information available yet)
No abstract text is available yet for this article.
December 15, 2016: Journal of Huntington's Disease
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
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
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
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
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
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
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
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
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
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
Allison M Keeler, Ellen Sapp, Kathryn Chase, Emily Sottosanti, Eric Danielson, Edith Pfister, Lorelei Stoica, Marian DiFiglia, Neil Aronin, Miguel Sena-Esteves
BACKGROUND: The genetic mutation in Huntington's disease (HD) is a CAG repeat expansion in the coding region of the huntingtin (Htt) gene. RNAi strategies have proven effective in substantially down-regulating Htt mRNA in the striatum through delivery of siRNAs or viral vectors based on whole tissue assays, but the extent of htt mRNA lowering in individual neurons is unknown. OBJECTIVE: Here we characterize the effect of an AAV9-GFP-miRHtt vector on Htt mRNA levels in striatal neurons of Q140/Q140 knock-in mice...
October 1, 2016: Journal of Huntington's Disease
Petr Vodicka, Kathryn Chase, Maria Iuliano, Adelaide Tousley, Dana T Valentine, Ellen Sapp, Kimberly B Kegel-Gleason, Miguel Sena-Esteves, Neil Aronin, Marian DiFiglia
BACKGROUND: Mutant huntingtin (mHTT) is encoded by the Huntington's disease (HD) gene and its accumulation in the brain contributes to HD pathogenesis. Reducing mHTT levels through activation of the autophagosome-lysosomal pathway may have therapeutic benefit. Transcription factor EB (TFEB) regulates lysosome biogenesis and autophagy. OBJECTIVE: To examine if increasing TFEB protein levels in HD mouse striatum induces autophagy and influences mHTT levels. METHODS: We introduced cDNA encoding TFEB with an HA tag (TFEB-HA) under the control of neuron specific synapsin 1 promoter into the striatum of 3 month old HDQ175/Q7 mice using adeno-associated virus AAV2/9...
October 1, 2016: Journal of Huntington's Disease
Marleen R van Walsem, Emilie I Howe, Jan C Frich, Nada Andelic
BACKGROUND: Assistive technology for cognition (ATC) can be defined as external devices aimed at supporting cognitive function. Studies in neurological populations suggest that use of ATC is a promising strategy to ameliorate negative effects of cognitive impairment and improve Health-related Quality of Life (HRQoL). There is a lack of studies on the effects of ATC in HD. OBJECTIVE: This study aimed to describe the use of ATC in patients with HD, and to investigate the association between ATC and HRQoL...
October 1, 2016: Journal of Huntington's Disease
Stephen J Sawiak, Nigel I Wood, A Jennifer Morton
BACKGROUND: Huntington's disease (HD) is caused by an unstable polyglutamine (CAG) repeat in the HD gene, whereby a CAG repeat length greater than ∼36 leads to the disease. In HD patients, longer repeats correlate with more severe disease and earlier death. This is also seen in R6/2 mice carrying repeat lengths up to ∼200. Paradoxically, R6/2 mice with repeat lengths >300 have a less aggressive phenotype and longer lifespan than those with shorter repeats. The mechanism underlying this phenomenon is unknown...
October 1, 2016: Journal of Huntington's Disease
Amit Kumar, Rajiv R Ratan
Redox homeostasis is crucial for proper cellular functions, including receptor tyrosine kinase signaling, protein folding, and xenobiotic detoxification. Under basal conditions, there is a balance between oxidants and antioxidants. This balance facilitates the ability of oxidants, such as reactive oxygen species, to play critical regulatory functions through a direct modification of a small number of amino acids (e.g. cysteine) on signaling proteins. These signaling functions leverage tight spatial, amplitude, and temporal control of oxidant concentrations...
October 1, 2016: Journal of Huntington's Disease
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