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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...
June 4, 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...
June 4, 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
Leslie Thompson, Blair R Leavitt
No abstract text is available yet for this article.
2018: Journal of Huntington's Disease
Filipe B Rodrigues, Edward J Wild
In the second edition of the Huntington’s Disease Clinical Trials Corner we list all currently registered and ongoing clinical trials, summarise the top-line results of the recently-announced IONIS-HTTRX trial (NCT02519036), expand on Wave Life Sciences’ PRECISION-HD1 (NCT03225833) and PRECISION-HD2 (NCT03225846), and cover one recently finished trial: the FIRST-HD deutetrabenazine trial (NCT01795859).
2018: Journal of Huntington's Disease
Marina Kovalenko, Austen Milnerwood, James Giordano, Jason St Claire, Jolene R Guide, Mary Stromberg, Tammy Gillis, Ellen Sapp, Marian DiFiglia, Marcy E MacDonald, Jeffrey B Carroll, Jong-Min Lee, Susan Tappan, Lynn Raymond, Vanessa C Wheeler
BACKGROUND: Successful disease-modifying therapy for Huntington's disease (HD) will require therapeutic intervention early in the pathogenic process. Achieving this goal requires identifying phenotypes that are proximal to the HTT CAG repeat expansion. OBJECTIVE: To use Htt CAG knock-in mice, precise genetic replicas of the HTT mutation in patients, as models to study proximal disease events. METHODS: Using cohorts of B6J.HttQ111/+ mice from 2 to 18 months of age, we analyzed pathological markers, including immunohistochemistry, brain regional volumes and cortical thickness, CAG instability, electron microscopy of striatal synapses, and acute slice electrophysiology to record glutamatergic transmission at striatal synapses...
2018: Journal of Huntington's Disease
Debby W Tsuang, Tiffany A Greenwood, Suman Jayadev, Marie Davis, Andrew Shutes-David, Thomas D Bird
BACKGROUND: Psychotic symptoms of delusions and hallucinations occur in about 5% of persons with Huntington's disease (HD). The mechanisms underlying these occurrences are unknown, but the same symptoms also occur in schizophrenia, and thus genetic risk factors for schizophrenia may be relevant to the development of psychosis in HD. OBJECTIVE: To investigate the possible role of genes associated with schizophrenia in the occurrence of psychotic symptoms in HD. METHODS: DNA from subjects with HD and psychosis (HD+P; n = 47), subjects with HD and no psychosis (HD-P; n = 126), and controls (CTLs; n = 207) was genotyped using the Infinium PsychArray-24 v1...
2018: Journal of Huntington's Disease
Olga Karin Solberg, Petra Filkuková, Jan C Frich, Kristin J Billaud Feragen
BACKGROUND: The literature offers discrepant findings regarding age at death in individuals with Huntington disease (HD). OBJECTIVE: To study the age at death and causes of death in males and females with a diagnosis of HD in Norway. METHODS: Registry study of deaths in 1986-2015 using data from two national registries: the Norwegian Cause of Death Registry (NCDR) and the registry of the Centre for Rare Disorders (CRD), Oslo University Hospital...
2018: Journal of Huntington's Disease
Susanna Waters, Joakim Tedroff, Henrik Ponten, Daniel Klamer, Clas Sonesson, Nicholas Waters
Despite advances in understanding the pathophysiology of Huntington's disease (HD), there are currently no effective pharmacological agents available to treat core symptoms or to stop or prevent the progression of this hereditary neurodegenerative disorder. Pridopidine, a novel small molecule compound, has demonstrated potential for both symptomatic treatment and disease modifying effects in HD. While pridopidine failed to achieve its primary efficacy outcomes (Modified motor score) in two trials (MermaiHD and HART) there were consistent effects on secondary outcomes (TMS)...
2018: Journal of Huntington's Disease
Jun Wu, Daniel Ryskamp, Lutz Birnbaumer, Ilya Bezprozvanny
BACKGROUND: Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. We previously discovered that mutant Huntingtin sensitizes type 1 inositol 1,4,5-trisphosphate receptor (InsP3R1) to InsP3. This causes calcium leakage from the endoplasmic reticulum (ER) and a compensatory increase in neuronal store-operated calcium (nSOC) entry. We previously demonstrated that supranormal nSOC leads to synaptic loss in striatal medium spiny neurons (MSNs) in YAC128 HD mice...
2018: Journal of Huntington's Disease
Catherine Kielar, A Jennifer Morton
The threshold of CAG repeat expansion in the HTT gene that causes HD is 36 CAG repeats, although 'superlong' expansions are found in individual neurons in postmortem brains. Previously, we showed that, compared to mice with <250 CAG repeats, onset of disease in R6/2 mice carrying superlong (>440) CAG repeat expansions was delayed, and disease progression was slower. Inclusion pathology also differed from 250 CAG repeat mice, being dominated by a novel kind of extranuclear neuronal inclusion (nENNI) that resembles a class of aggregate seen in patients with the adult onset form of HD...
2018: Journal of Huntington's Disease
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