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Journal of Huntington's Disease

Aad Tibben, Wybo J Dondorp, Guido M de Wert, Christine E de Die-Smulders, Moniek Losekoot, Emilia K Bijlsma
Amongst the main reasons people at risk for Huntington's disease (HD) have for undergoing predictive genetic testing are planning a family and prevention of passing on an expanded CAG-repeat to future offspring. After having received an unfavourable test result, a couple may consider prenatal testing in the foetus or preimplantation genetic diagnostic testing (PGD) in embryos. Testing of the foetus or embryos is possible by means of direct testing of the expanded repeat. Optimal reliability in testing the foetus or embryos requires the establishment of the origin of the repeats of both parents in the foetus...
November 24, 2019: Journal of Huntington's Disease
Mayke Oosterloo, David Craufurd, Hanneke Nijsten, Erik van Duijn
BACKGROUND: Neuropsychiatric symptoms are highly prevalent in Huntington's disease (HD). However, little is known of the prevalence and course of obsessive-compulsive behaviors (OCBs) and perseverative behaviors (PBs) during the progression of the disease. OBJECTIVE: This review provides a summary of the literature on OCBs and PBs in HD gene expansion carriers (HDGECs). METHODS: Pubmed database was searched for articles on OCBs and PBs in HD up to 2017...
January 31, 2019: Journal of Huntington's Disease
Lorena Rieke, Michaela Fels, Robin Schubert, Benjamin Habbel, Tamara Matheis, Verena Schuldenzucker, Nicole Kemper, Ralf Reilmann
BACKGROUND: To increase the reliability of translating preclinical findings to humans, large genetic animals, such as the transgenic (tg) Libechov minipig, were established. As minipigs possess high genetic homology with humans and have similarities in anatomy, physiology and metabolism to humans, they are considered for studying neurodegenerative diseases longitudinally. Recently, sleep abnormalities and changes in circadian rhythm in Huntington's disease (HD) patients were acknowledged to present one of the early symptoms in HD...
January 24, 2019: Journal of Huntington's Disease
Tanya M Bardakjian, Kaylee Faulkner Naczi, Pedro Gonzalez-Alegre
BACKGROUND: Advances in molecular therapeutic approaches in the last decade are translating into the design of non-traditional clinical trials. In order to improve their feasibility, it is important to understand the attitudes of potential participants towards these trials, their motivations to get involved and acceptance of risks. OBJECTIVE: We aimed to better understand the willingness of potential participants to participate in different molecular therapy trials for Huntington's disease (HD) based on their clinical and genetic status, trial design and goals of the treatment...
January 21, 2019: Journal of Huntington's Disease
Melanie P Jensen, Roger A Barker
To date, no candidate intervention has demonstrated a disease-modifying effect in Huntington's disease, despite promising results in preclinical studies. In this commentary we discuss disease-modifying therapies that have been trialled in Huntington's disease and speculate that these failures may be attributed, in part, to the assumption that a single drug selectively targeting one aspect of disease pathology will be universally effective, regardless of disease stage or "subtype". We therefore propose an alternative approach for effective disease-modification that uses 1) a combination approach rather than monotherapy, and 2) targets the disease process early on - before it is clinically manifest...
January 8, 2019: Journal of Huntington's Disease
Adelaide Tousley, Maria Iuliano, Elizabeth Weisman, Ellen Sapp, Ningzhe Zhang, Petr Vodicka, Jonathan Alexander, Hubert Aviolat, Leah Gatune, Patrick Reeves, Xueyi Li, Anastasia Khvorova, M Lisa Ellerby, Neil Aronin, Marian DiFiglia, B Kimberly Kegel-Gleason
BACKGROUND: Previous studies suggest that Huntingtin, the protein mutated in Huntington's disease (HD), is required for actin based changes in cell morphology, and undergoes stimulus induced targeting to plasma membranes where it interacts with phospholipids involved in cell signaling. The small GTPase Rac1 is a downstream target of growth factor stimulation and PI 3-kinase activity and is critical for actin dependent membrane remodeling. OBJECTIVE: To determine if Rac1 activity is impaired in HD or regulated by normal Huntingtin...
December 28, 2018: Journal of Huntington's Disease
Margaret Yu, Kenny Tan, Kimberly Koloms, Danny Bega
Huntington's disease (HD) is a rare neurodegenerative disease associated with disability and loss of patient independence. The caregivers of HD patients are at high risk for burnout. We aimed to identify variables that impact caregiver burden, as measured by the Modified Caregiver Strain Index (MCSI) and the Huntington's disease Quality of Life Battery for Carers Short Form (HD-SF). Total functional capacity and being sole caregiver were significantly associated with higher caregiver burden via MCSI. There was not good correlation between MCSI and HDQoLC-SF...
December 24, 2018: Journal of Huntington's Disease
Petra Smatlikova, Stefan Juhas, Jana Juhasova, Tomas Suchy, Marie Hubalek Kalbacova, Zdenka Ellederova, Jan Motlik, Jiri Klima
BACKGROUND: Although the highest expression of mutant huntingtin (mtHtt) was observed in the brain, its negative effects were also apparent in other tissues. Specifically, mtHtt impairs metabolic homeostasis and causes transcriptional dysregulation in adipose tissue. Adipogenic differentiation can be induced by the activation of two transcription factors: CCAAT/enhancer-binding protein alpha (CEBPα) and peroxisome proliferator-activated receptor gamma (PPARγ). These same transcription factors were found to be compromised in some tissues of Huntington's disease (HD) mouse models and in lymphocytes of HD patients...
December 21, 2018: Journal of Huntington's Disease
Filipe B Rodrigues, Lori Quinn, Edward J Wild
In this edition of the Huntington's Disease Clinical Trials Corner we expand on the GENERATION-HD1 and PACE-HD trials, and we list all currently registered and ongoing clinical trials in Huntington's disease.
2019: Journal of Huntington's Disease
(no author information available yet)
No abstract text is available yet for this article.
2019: Journal of Huntington's Disease
Hayden J Farrell, Sophie C Andrews, Nicholas P Ryan, Marie-Claire Davis, Stephanie Gordon, Julie C Stout, Fiona Fisher
BACKGROUND: DriveSafe DriveAware (DSDA) has been validated as an off-road screening tool for predicting on-road driving performance in clinical populations, but its utility in people with Huntington's disease (HD) is unknown. OBJECTIVE: Our aim was to evaluate the utility of DSDA in people with HD by demonstrating sensitivity of DSDA scores to HD progression and exploring associations between DSDA performance and cognitive functions that are essential to driving and impaired in people with HD...
2019: Journal of Huntington's Disease
Iris Trinkler, Philippe Chéhère, Julie Salgues, Marie-Lorraine Monin, Sophie Tezenas du Montcel, Sonia Khani, Marcela Gargiulo, Alexandra Durr
BACKGROUND: Physical exercise improves neurological conditions, but adherence is hard to establish. Dance might be a promising alternative; however, since patients with Huntington's disease (HD) suffer from rhythmic movement execution deficits, any metric dance practice must be avoided. OBJECTIVE: Here we asked, if contemporary dance, a lyrical dance form, practiced for two hours per week over five months, might improve motor function, neuropsychiatric variables, cognition and brain volume of HD patients...
2019: Journal of Huntington's Disease
Makoto Hashimoto, Gilbert Ho, Yoshiki Takamatsu, Ryoko Wada, Shuei Sugama, Takato Takenouchi, Eliezer Masliah, Masaaki Waragai
The polyglutamine (polyQ) diseases, such as Huntington's disease and the spinocerebellar ataxias, are characterized by the accumulation of elongated polyQ sequences (epolyQ) and mostly occur during midlife. Considering that polyQ disorders have not been selected out in evolution, there might be important physiological functions of epolyQ during development and/or reproduction. In a similar context, the physiological functions of neurodegeneration-associated amyloidogenic proteins (APs), such as β-amyloid in Alzheimer's disease and α-synuclein in Parkinson's disease, remain elusive...
October 26, 2018: Journal of Huntington's Disease
Miranda F Lewit-Mendes, Georgia C Lowe, Sharon Lewis, Louise A Corben, Martin B Delatycki
BACKGROUND: For young people in families with Huntington's disease (HD) the challenge of having an affected family member (AFM) compounds challenges related to being at risk of HD themselves. OBJECTIVE: This study aimed to quantitatively examine the experiences of young people in families with HD, adding to existing qualitative studies regarding teenagers and young adults in families with HD. METHODS: The experiences of young people with living in a family with HD were captured by an online anonymous questionnaire, available worldwide through the Huntington's Disease Youth Organization...
October 26, 2018: Journal of Huntington's Disease
Marleen R van Walsem, Anu Piira, Geir Mikalsen, Hanne Ludt Fossmo, Emilie I Howe, SynnØve F Knutsen, Jan C Frich
BACKGROUND: Studies of physical therapy and multidisciplinary rehabilitation programs for Huntington's disease (HD) have shown improvements in gait function, balance, and physical quality of life. There is a gap in the literature on effects of cognitive interventions and the potential to improve cognitive performance. OBJECTIVE: To assess changes in cognitive performance among patients with early to middle stage HD as secondary analyses from a one-year multidisciplinary rehabilitation program...
September 29, 2018: Journal of Huntington's Disease
Daniel O Claassen, Ravi G Iyer, Bijal Shah-Manek, Marco DiBonaventura, Victor Abler, Victor W Sung
BACKGROUND: Huntington disease (HD) is a neurodegenerative disorder characterized by motor impairments (including chorea), along with behavioral, psychiatric, and cognitive symptoms. Tetrabenazine was the first US Food and Drug Administration (FDA)-approved treatment for chorea related to HD. OBJECTIVE: To examine pharmacologic treatment patterns among patients using tetrabenazine, including reasons for treatment initiation, non-initiation, dose adjustments, and discontinuation, and to quantify the burden of chorea based on healthcare resource utilization...
September 24, 2018: Journal of Huntington's Disease
Kristen Watkins, Jennifer Purks, Anagha Kumar, Rosemary K Sokas, Hope Heller, Karen E Anderson
BACKGROUND: Huntington's disease (HD) presents with motor, cognitive, and behavioral symptoms that impair functional capacity and the ability to maintain employment. The relative contribution of cognitive decline to work disability remains controversial. OBJECTIVE: To evaluate the association of cognitive decline, compared with motor decline, with the decision to leave work. METHODS: Data from the Enroll-HD observational study were analyzed...
September 4, 2018: Journal of Huntington's Disease
(no author information available yet)
No abstract text is available yet for this article.
2018: Journal of Huntington's Disease
Sarah B Thomson, Blair R Leavitt
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide expansion in the HTT gene, which encodes for an abnormal polyglutamine tract in the huntingtin protein (HTT). This review examines the known mechanisms of HTT gene regulation. We discuss HTT expression patterns, features of the HTT promoter, regulatory regions of the HTT promoter with functional significance, and HTT regulators located outside of the proximal promoter region. The factors that influence HTT expression in the brain and the mechanisms of HTT transcriptional regulation are currently poorly understood, despite continuing research...
2018: Journal of Huntington's Disease
Eva L Morozko, Joseph Ochaba, Sarah J Hernandez, Alice Lau, Isabella Sanchez, Iliana Orellana, Lexi Kopan, Joshua Crapser, Janet H Duong, Julia Overman, Silvia Yeung, Joan S Steffan, Jack Reidling, Leslie M Thompson
BACKGROUND: Biochemical analysis of mutant huntingtin (mHTT) aggregation species in HD mice is a common measure to track disease. A longitudinal and systematic study of how tissue processing affects detection of conformers has not yet been reported. Understanding the homeostatic flux of mHTT over time and under different processing conditions would aid in interpretation of pre-clinical assessments of disease interventions. OBJECTIVE: Provide a systematic evaluation of tissue lysis methods and molecular and biochemical assays in parallel with behavioral readouts in R6/2 mice to establish a baseline for HTT exon1 protein accumulation...
2018: Journal of Huntington's Disease
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