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Journal of Huntington's Disease

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https://www.readbyqxmd.com/read/30400103/disease-progression-in-huntington-disease-an-analysis-of-multiple-longitudinal-outcomes
#1
Tanya P Garcia, Yuanjia Wang, Ira Shoulson, Jane S Paulsen, Karen Marder
BACKGROUND: Critical to discovering targeted therapies for Huntington disease (HD) are validated methods that more precisely predict when clinical outcomes occur for different patient profiles. OBJECTIVE: To more precisely predict the probability of when motor diagnosis (diagnostic confidence level 4) on the Unified Huntington's Disease Rating Scale (UHDRS), cognitive impairment (two or more neuropsychological scores on the UHDRS were 1.5 standard deviations below normative means) and Stage II Total Functional Capacity (TFC) first occur by accounting for dependencies between these outcomes...
October 29, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30372687/possible-role-of-the-polyglutamine-elongation-in-evolution-of-amyloid-related-evolvability
#2
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
https://www.readbyqxmd.com/read/30372686/young-people-living-at-risk-of-huntington-s-disease-the-lived-experience
#3
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
https://www.readbyqxmd.com/read/30320596/selective-neuronal-uptake-and-distribution-of-aavrh8-aav9-and-aavrh10-in-sheep-after-intra-striatal-administration
#4
Erica Mondo, Richard Moser, Guangping Gao, Christian Mueller, Miguel Sena-Esteves, Ellen Sapp, Edith Pfister, Denice O'Connell, Kendra Takle, Kirsten E Erger, Wanglin Liu, Thomas J Conlon, Marian DiFiglia, Matthew J Gounis, Neil Aronin
BACKGROUND: Transgenic sheep are currently the only large animal model of Huntington's disease expressing full-length mutant human huntingtin. These transgenic sheep provide an opportunity to test adeno associated virus (AAV) therapies directly targeting the huntingtin gene. A recent study demonstrated that self-complementary (sc) AAV with artificial miRNA against human huntingtin reduced mutant human huntingtin in caudate and putamen after a single injection near the internal capsule...
September 29, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30320595/cognitive-performance-after-a-one-year-multidisciplinary-intensive-rehabilitation-program-for-huntington-s-disease-an-observational-study
#5
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
https://www.readbyqxmd.com/read/30282372/tetrabenazine-treatment-patterns-and-outcomes-for-chorea-associated-with-huntington-disease-a-retrospective-chart-review
#6
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
https://www.readbyqxmd.com/read/30198875/huntington-s-disease-and-employment-the-relative-contributions-of-cognitive-and-motor-decline-to-the-decision-to-leave-work
#7
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
https://www.readbyqxmd.com/read/30103342/huntington-s-disease-clinical-trials-corner-august-2018
#8
Filipe B Rodrigues, Edward J Wild
In the third edition of the Huntington's Disease Clinical Trials Corner we list all currently registered and ongoing clinical trials, expand on the SIGNAL trial (NCT02481674), and cover the recently finished CREST-E trial (NCT00712426).
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30103341/marriage-as-protector-for-nursing-home-admission-in-huntington-s-disease
#9
Jessica Y Winder, Wilco P Achterberg, Raymund A C Roos
BACKGROUND: Huntington's disease is a progressive, incurable neurodegenerative disorder and it is not possible to delay onset or progression of the disease. Consequently, the disease leads to functional decline and loss of independency and finally to institutionalization. OBJECTIVE: The aim of this study is to identify factors which are associated with nursing home admission in patients with Huntington's disease. METHODS: The Unified Huntington's Disease Rating Scale (UHDRS) and the UHDRS-For Advanced Patients (UHDRS-FAP) were administered in 28 nursing home residents and 12 patients receiving day-care...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30103340/vocalisation-as-a-viable-assessment-for-phenotyping-minipigs-transgenic-for-the-huntington-gene
#10
Lorena Rieke, Robin Schubert, Tamara Matheis, Lisa M Muratori, Jan Motlik, Sarah Schramke, Michaela Fels, Nicole Kemper, Verena Schuldenzucker, Ralf Reilmann
BACKGROUND: Large animal models, such as the transgenic (tg) Huntington disease (HD) minipig, have been proposed to improve translational reliability and assessment of safety, efficacy and tolerability in preclinical studies. Minipigs are characterised by high genetic homology and comparable brain structures to humans. In addition, behavioural assessments successfully applied in humans could be explored in minipigs to establish similar endpoints in preclinical and clinical studies. Recently, analysis of voice and speech production was established to characterise HD patients...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30103339/computational-analysis-of-transcriptional-regulation-sites-at-the-htt-gene-locus
#11
Rebecca A G De Souza, Natalia Kosior, Sarah B Thomson, Anthony Mathelier, Allen W Zhang, Kristina Bečanović, Wyeth W Wasserman, Blair R Leavitt
BACKGROUND: Huntington's disease is a late onset neurological disorder caused by a trinucleotide CAG repeat expansion mutation in the HTT gene encoding for the protein huntingtin. Despite considerable ongoing research, the wild-type function of huntingtin is not yet fully understood. OBJECTIVE: To improve knowledge of HTT gene regulation at the transcriptional level and inform future studies aimed at uncovering the HTT gene's normal function. METHODS: The HTT gene region was functionally characterized through an in silico analysis using publicly available data sets...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30103338/reduced-cancer-incidence-in-huntington-s-disease-analysis-in-the-registry-study
#12
Paul McNulty, Richard Pilcher, Raviram Ramesh, Renata Necuiniate, Alis Hughes, Daniel Farewell, Peter Holmans, Lesley Jones
BACKGROUND: People with Huntington's disease (HD) have been observed to have lower rates of cancers. OBJECTIVE: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. METHODS: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30056431/suicidal-ideation-assessment-in-individuals-with-premanifest-and-manifest-huntington-disease
#13
Melissa Wesson, Nicholas R Boileau, Joel S Perlmutter, Jane S Paulsen, Stacey K Barton, Michael K McCormack, Noelle E Carlozzi
BACKGROUND: Huntington disease (HD) is associated with increased risk of suicide. OBJECTIVE: This study compares suicide ideation in HD to the general population, assesses factors associated with increased prevalence of suicidal thoughts, and compares clinician-rated to self-reported assessments of suicidal ideation. METHODS: We examined 496 participants with premanifest or manifest HD. Clinician-rated suicidal ideation was measured using the Problem Behaviors Assessment - short form...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/30040737/clinical-management-of-neuropsychiatric-symptoms-of-huntington-disease-expert-based-consensus-guidelines-on-agitation-anxiety-apathy-psychosis-and-sleep-disorders
#14
Karen E Anderson, Erik van Duijn, David Craufurd, Carolyn Drazinic, Mary Edmondson, Nathan Goodman, Daniel van Kammen, Clement Loy, Josef Priller, LaVonne Veatch Goodman
BACKGROUND: In clinical practice, several strategies and pharmacological options are available to treat neuropsychiatric symptoms of Huntington disease (HD). However, there is currently insufficient data for evidence-based guidelines on the management of these common symptoms. OBJECTIVE: We aimed to develop expert-based recommendations regarding the management of agitation, anxiety, apathy, psychosis, and sleep disorders. METHODS: Guideline development was based on a modified Institute of Medicine guideline process that accounted for a lack of evidence base...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29889077/cancer-from-wild-type-to-mutant-huntingtin
#15
Morgane Sonia Thion, Sandrine Humbert
Huntingtin (HTT) is a scaffold protein mostly known because it gives rise to the severe and incurable inherited neurological disorder Huntington's disease (HD) when mutated. The Huntingtin gene (HTT) carries a polymorphic trinucleotide expansion of CAGs in exon 1 that ranges from 9 to 35 in the non-HD affected population. However, if it exceeds 35 CAG repeats, the altered protein is referred to as mutant HTT and leads to the development of HD. Given the wide spectrum of severe symptoms developed by HD individuals, wild-type and mutant HTT have been mostly studied in the context of this disorder...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29889076/anorectal-dysfunction-in-presymptomatic-mutation-carriers-and-patients-with-huntington-s-disease
#16
Jan Kobal, Kolenc Matej, Matic Koželj, Simon Podnar
BACKGROUND: Huntington's disease (HD) patients often report anorectal dysfunction; however, in HD research no detailed analysis of these complaints has been published. OBJECTIVE: To report anorectal dysfunction in a systematically studied cohort of HD subjects. METHODS: In 54 HD patients (24 men) and 10 presymptomatic HD mutation carriers (2 men) and in 99 controls (44 men) a history of anal incontinence and constipation was obtained and data was compared accordingly...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29865084/a-fresh-look-at-huntingtin-mrna-processing-in-huntington-s-disease
#17
Lindsay Romo, Emily S Mohn, Neil Aronin
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a mutation that expands the polyglutamine (CAG) repeat in exon 1 of the huntingtin (HTT) gene. Wild-type HTT protein interacts with other proteins to protect cells against toxic stimuli, mediate vesicle transport and endocytosis, and modulate synaptic activity. Mutant HTT protein disrupts autophagy, vesicle transport, neurotransmitter signaling, and mitochondrial function. Although many of the activities of wild-type HTT protein and the toxicities of mutant HTT protein are characterized, less is known about the activities of HTT mRNA...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29843250/huntington-s-disease-outpatient-clinic-for-functional-diagnosis-and-treatment-coming-to-consensus-how-long-term-care-facility-procedures-complement-specialist-diagnosis-and-treatment
#18
Ruth Veenhuizen, Hanneke Nijsten, Paul van Roosmalen, Karen Lammertsen, Tom Stor, Lia de Jager, Jesseke de Man, Rina van der Doelen, Karin Landa, Vera Grond, Joyce Heffels, Rinske Groenewoud, Luce Rovers, Christian Bakker, Saskia Leiwakabessy, Dirk van der Wedden, Jacqueline van Blitterswijk, Dieuwke van den Bosch
Huntington's disease (HD) patients and families deserve expert treatment and care throughout their lives, but uniformity in functional diagnosis and treatment was lacking. In the aim of reaching this uniformity on day-to-day treatment and care offered by multidisciplinary outreach teams from Dutch long term care facilities for ambulatory HD patients, a consensus trajectory was started to harmonise our care programme with international standards and within the country. The consensus statements, given as supplementary material, should lead to expert treatment and care for HD families throughout the Netherlands and this manuscript should contribute and revitalise a global discussion on standards of treatment and care...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29843249/circadian-rhythm-cognition-and-mood-disorders-in-huntington-s-disease
#19
Elena Bellosta Diago, Saül Martínez-Horta, Sonia Santos Lasaosa, Alejandro Viloria Alebesque, Jesús Pérez-Pérez, Jaime Kulisevsky, Javier López Del Val
BACKGROUND: Sleep disturbances are an early and prominent feature of Huntington's disease (HD). OBJECTIVE: The current study investigated the relation between sleep quality impairment and cognitive and psychiatric symptoms in patients with HD. METHODS: Sleep quality, daytime sleepiness, and neurocognitive symptoms were assessed in 38 mutation carriers (23 premanifest and 15 early stage) and 38 age-and sex-matched controls using standardized questionnaires (the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, the cognitive section of the Unified Huntington's Disease Rating Scale, the Hospital Anxiety and Depression Scale, and the Irritability Scale)...
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29843248/human-immunodeficiency-virus-infection-in-huntington-s-disease-is-associated-with-an-earlier-age-of-symptom-onset
#20
Jordan L Schultz, Peg C Nopoulos, Pedro Gonzalez-Alegre
BACKGROUND: Huntington Disease (HD) and human immunodeficiency virus (HIV) are both associated with neurodegeneration in the cerebral cortex and striatum. The rate of striatal degeneration is a known predictor of symptom onset in HD indicating a potential neurobiological link between HD and HIV. OBJECTIVE: To determine if the presence of pre-existing HIV infection would trigger a significantly earlier age of symptom onset (ASO) in HD-mutation carriers when compared to non-infected HD subjects...
2018: Journal of Huntington's Disease
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