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Journal of Huntington's Disease

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https://www.readbyqxmd.com/read/29614689/a-critical-evaluation-of-wet-biomarkers-for-huntington-s-disease-current-status-and-ways-forward
#1
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...
March 26, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29614688/perseveration-and-suicide-in-huntington-s-disease
#2
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...
March 26, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29562549/cannabinoids-for-treatment-of-dystonia-in-huntington-s-disease
#3
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...
March 16, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29562548/genetic-counselling-and-narrative-practices-a-model-of-support-following-a-negative-predictive-test-for-huntington-s-disease
#4
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...
March 16, 2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29504545/editorial-on-clinical-trial-s-corner
#5
Leslie Thompson, Blair R Leavitt
No abstract text is available yet for this article.
2018: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29480210/huntington%C3%A2-s-disease-clinical-trials-corner-february-2018
#6
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
https://www.readbyqxmd.com/read/29480209/httq111-huntington-s-disease-knock-in-mice-exhibit-brain-region-specific-morphological-changes-and-synaptic-dysfunction
#7
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
https://www.readbyqxmd.com/read/29480208/a-genetic-study-of-psychosis-in-huntington-s-disease-evidence-for-the-involvement-of-glutamate-signaling-pathways
#8
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
https://www.readbyqxmd.com/read/29480207/age-at-death-and-causes-of-death-in-patients-with-huntington-disease-in-norway-in-1986-2015
#9
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
https://www.readbyqxmd.com/read/29480206/pridopidine-overview-of-pharmacology-and-rationale-for-its-use-in-huntington-s-disease
#10
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
https://www.readbyqxmd.com/read/29480205/inhibition-of-trpc1-dependent-store-operated-calcium-entry-improves-synaptic-stability-and-motor-performance-in-a-mouse-model-of-huntington-s-disease
#11
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
https://www.readbyqxmd.com/read/29480204/early-neurodegeneration-in-r6-2-mice-carrying-the-huntington-s-disease-mutation-with-a-super-expanded-cag-repeat-despite-normal-lifespan
#12
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
https://www.readbyqxmd.com/read/28482643/female-sexual-dysfunction-in-presymptomatic-mutation-carriers-and-patients-with-huntington-s-disease
#13
Matej Kolenc, Jan Kobal, Simon Podnar
BACKGROUND: Although in Huntington's disease (HD) movement, cognition, and personality are most significantly affected, autonomic dysfunction should not be neglected. In women with HD sexual dysfunction has not been adequately studied yet. OBJECTIVE: To report sexual dysfunction in a systematically studied cohort of female HD patients and compare it with controls of a similar age. METHODS: In female HD patients and presymptomatic HD mutation carriers, we compared the Female Sexual Function Index (FSFI) questionnaire, neurologic assessment using the Unified Huntington's Disease Rating Scale (UHDRS) and the Total Functional Capacity (TFC)...
May 5, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29254103/cognitive-dysfunction-contributes-to-mobility-impairments-in-huntington-s-disease
#14
Anne D Kloos, Deb A Kegelmeyer, Nora E Fritz, Allison M Daley, Gregory S Young, Sandra K Kostyk
BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative disorder that results in a gradual decline in mobility and balance. Increasing evidence has documented an important role of executive function in the safe ambulation of the elderly and people with a variety of neurological disorders. Little is known about the contribution of cognitive deficits to decline in mobility over time in HD. OBJECTIVE: This study examined the relationships of mobility, motor and cognitive function measures at baseline, and of mobility and cognitive measures over four years...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29254102/modulating-neurotrophin-receptor-signaling-as-a-therapeutic-strategy-for-huntington-s-disease
#15
Danielle A Simmons
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in the IT15 gene which encodes the huntingtin (HTT) protein. Currently, no treatments capable of preventing or slowing disease progression exist. Disease modifying therapeutics for HD would be expected to target a comprehensive set of degenerative processes given the diverse mechanisms contributing to HD pathogenesis including neuroinflammation, excitotoxicity, and transcription dysregulation. A major contributor to HD-related degeneration is mutant HTT-induced loss of neurotrophic support...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29125493/validation-of-ultrasensitive-mutant-huntingtin-detection-in-human-cerebrospinal-fluid-by-single-molecule-counting-immunoassay
#16
Valentina Fodale, Roberto Boggio, Manuel Daldin, Cristina Cariulo, Maria Carolina Spiezia, Lauren M Byrne, Blair R Leavitt, Edward J Wild, Douglas Macdonald, Andreas Weiss, Alberto Bresciani
BACKGROUND: The measurement of disease-relevant biomarkers has become a major component of clinical trial design, but in the absence of rigorous clinical and analytical validation of detection methodology, interpretation of results may be misleading. In Huntington's disease (HD), measurement of the concentration of mutant huntingtin protein (mHTT) in cerebrospinal fluid (CSF) of patients may serve as both a disease progression biomarker and a pharmacodynamic readout for HTT-lowering therapeutic approaches...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29125492/towards-an-understanding-of-energy-impairment-in-huntington-s-disease-brain
#17
Janet M Dubinsky
This review systematically examines the evidence for shifts in flux through energy generating biochemical pathways in Huntington's disease (HD) brains from humans and model systems. Compromise of the electron transport chain (ETC) appears not to be the primary or earliest metabolic change in HD pathogenesis. Rather, compromise of glucose uptake facilitates glucose flux through glycolysis and may possibly decrease flux through the pentose phosphate pathway (PPP), limiting subsequent NADPH and GSH production needed for antioxidant protection...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29036832/neuropathological-comparison-of-adult-onset-and-juvenile-huntington-s-disease-with-cerebellar-atrophy-a-report-of-a-father-and-son
#18
Caitlin S Latimer, Margaret E Flanagan, Patrick J Cimino, Suman Jayadev, Marie Davis, Zachary S Hoffer, Thomas J Montine, Luis F Gonzalez-Cuyar, Thomas D Bird, C Dirk Keene
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28984613/the-impact-of-family-history-on-the-clinical-features-of-huntington-s-disease
#19
Gabe Kringlen, Lisa Kinsley, Sharon Aufox, Gerald Rouleau, Danny Bega
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. In most cases the disease is inherited from a parent, although a considerable number of affected persons have no reported family history of the disease. While CAG repeat length is negatively correlated with age of symptom onset, variability exists suggesting that other variables may influence symptom onset. OBJECTIVES: The objective of this study is to determine whether awareness of a family history of HD has an impact on symptom onset and disease manifestations...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28968246/introducing-the-clinical-trials-corner
#20
Blair R Leavitt, Leslie M Thompson
No abstract text is available yet for this article.
2017: Journal of Huntington's Disease
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