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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
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
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
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
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
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
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
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
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
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
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
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
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
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
Verena Schuldenzucker, Robin Schubert, Lisa M Muratori, Frauke Freisfeld, Lorena Rieke, Tamara Matheis, Sarah Schramke, Jan Motlik, Nicole Kemper, Ute Radespiel, Ralf Reilmann
BACKGROUND: Huntington's disease (HD) is an autosomal-dominant, progressive neurodegenerative disorder with motor, cognitive, behavioral and metabolic symptoms. HD patients exhibit an altered response to stress which is reflected in changes of cortisol levels. Large animal models of HD such as the Libechov minipig are currently explored in preclinical studies to improve translational reliability and assessing behavior is of interest. OBJECTIVE: This study aimed to investigate whether cortisol metabolism and response to stress are changed in minipigs transgenic for the Huntington gene (tgHD) compared to wildtype (wt) animals suggesting that cortisol may be used as a marker for stress in minipigs...
2018: Journal of Huntington's Disease
Nicholas R Franich, Manuela Basso, Emily A André, Joseph Ochaba, Amit Kumar, Soe Thein, Gianna Fote, Marketta Kachemov, Alice L Lau, Sylvia Y Yeung, Alexander Osmand, Scott O Zeitlin, Rajiv R Ratan, Leslie M Thompson, Joan S Steffan
BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative disorder associated with aging, caused by an expanded polyglutamine (polyQ) repeat within the Huntingtin (HTT) protein. In HD, degeneration of the striatum and atrophy of the cortex are observed while cerebellum is less affected. OBJECTIVE: To test the hypothesis that HTT protein levels decline with age, which together with HTT mutation could influence disease progression. METHODS: Using whole brain cell lysates, a unique method of SDS-PAGE and western analysis was used to quantitate HTT protein, which resolves as a monomer and as a high molecular weight species that is modulated by the presence of transglutaminase 2...
2018: Journal of Huntington's Disease
Edina Silajdžić, Maria Björkqvist
There is an unmet clinical need for objective biomarkers to monitor disease progression and treatment response in Huntington's disease (HD). The aim of this review is, therefore, to provide practical advice for biomarker discovery and to summarise studies on biofluid markers for HD. A PubMed search was performed to review literature with regard to candidate saliva, urine, blood and cerebrospinal fluid biomarkers for HD. Information has been organised into tables to allow a pragmatic approach to the discussion of the evidence and generation of practical recommendations for future studies...
2018: Journal of Huntington's Disease
Olivia C Roman, Jeffrey Stovall, Daniel O Claassen
BACKGROUND: Huntington's disease (HD) patients are at significantly higher risk of suicidal behavior, and associated cognitive and behavioral factors play an important role. Impulsivity is commonly thought to be a risk factor, but does not completely account for all suicide attempts. OBJECTIVE: To provide clinical evidence that perseverative behavior may precipitate suicide attempts in HD. METHODS: Case review of four HD patients who attempted suicide...
2018: Journal of Huntington's Disease
Carsten Saft, Sarah Maria von Hein, Thomas Lücke, Charlotte Thiels, Marina Peball, Atbin Djamshidian, Beatrice Heim, Klaus Seppi
BACKGROUND: Motor symptoms in Huntington's disease (HD) are heterogeneous with dystonia being described as a symptom with a very high prevalence not only in juvenile cases. OBJECTIVE: Treatment options for dystonia are limited. Cannabinoids have been described as a potential treatment for patients with dystonia of a different origin. Here, we present early onset HD patients with a marked improvement of motor symptoms mainly due to alleviation of dystonia due to treatment with cannabinoids...
2018: Journal of Huntington's Disease
Rhona MacLeod, Ramona Moldovan, Cheryl Stopford, Mariangels Ferrer-Duch
BACKGROUND: Predictive testing for Huntington's disease (HD) has been available for individuals at risk of HD by direct mutation analysis since 1993. International Predictive test guidelines recommend that support is offered following the result regardless of test outcome. However, there is lack of an evidence base regarding what this support should look like and how it might work in practice. OBJECTIVE: A service improvement initiative looked at the feasibility of offering a narrative group session co-facilitated by a genetic counsellor and clinical psychologist, to individuals who had tested mutation negative for HD...
2018: Journal of Huntington's Disease
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