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Journal of Huntington's Disease

Valentina Fodale, Roberto Boggio, Manuel Daldin, Cristina Cariulo, Maria Carolina Spiezia, Lauren Mary Byrne, Blair R Leavitt, Edward 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...
November 9, 2017: Journal of Huntington's Disease
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...
November 9, 2017: Journal of Huntington's Disease
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...
October 11, 2017: Journal of Huntington's Disease
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...
October 5, 2017: Journal of Huntington's Disease
Haruhiko Banno, Kelly L Andrzejewski, Michael P McDermott, Alyssa Murphy, Madhurima Majumder, Elisabeth A de Blieck, Peggy Auinger, Merit E Cudkowicz, Nazem Atassi
No abstract text is available yet for this article.
September 14, 2017: Journal of Huntington's Disease
Kiersten Berggren, Sonal Agrawal, Julia A Fox, Justin Hildenbrand, Ryan Nelson, Ashley I Bush, Jonathan H Fox
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder caused by a CAG expansion in the huntingtin gene that results in expression of mutant huntingtin protein. Iron accumulates in HD brain neurons. Amyloid precursor protein (APP) promotes neuronal iron export. However, the role of APP in brain iron accumulation in HD is unclear. OBJECTIVE: To determine the effects of APP insufficiency on HD in YAC128 mice. METHODS: We crossed APP hemizygous mice (APP+/-) with YAC128 mice that are transgenic (Tg) for human mutant huntingtin (hmHTT) to generate APP+/+ hmHTT-/-, APP+/- hmHTT-/-, APP+/+ hmHTT+/- and APP+/- hmHTT+/- progeny...
May 24, 2017: Journal of Huntington's Disease
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
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
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
Blair R Leavitt, Leslie M Thompson
No abstract text is available yet for this article.
2017: Journal of Huntington's Disease
Filipe B Rodrigues, Edward J Wild
Clinical Trials Corner of Journal of Huntington's Disease will regularly review ongoing and recently completed clinical trials in Huntington's disease. In this inaugural issue, we list all currently registered and ongoing clinical trials, expand on LEGATO-HD and IONIS-HTTRx, and cover two recently finished trials: Amaryllis and Pride-HD.
2017: Journal of Huntington's Disease
Nora E Fritz, Ashwini K Rao, Deb Kegelmeyer, Anne Kloos, Monica Busse, Lynda Hartel, Judith Carrier, Lori Quinn
BACKGROUND: A number of studies evaluating physical therapy and exercise interventions in Huntington's disease have been conducted over the past 15 years. However, an assessment of the quality and strength of the evidence in support of these interventions is lacking. OBJECTIVE: The purpose of this systematic review was to investigate the effectiveness of physical therapy and exercise interventions in people with Huntington's disease, and to examine the perceptions of patients, families and caregivers of these interventions...
2017: Journal of Huntington's Disease
Jocelynn R Pearl, Laura M Heath, Dani E Bergey, John P Kelly, Corrie Smith, Mercy Y Laurino, Avery Weiss, Nathan D Price, Albert LaSpada, Thomas D Bird, Suman Jayadev
BACKGROUND: Huntington's disease (HD) is a fatal progressive neurodegenerative disease characterized by chorea, cognitive impairment and psychiatric symptoms. Retinal examination of HD patients as well as in HD animal models have shown evidence of retinal dysfunction. However, a detailed retinal study employing clinically available measurement tools has not been reported to date in HD. OBJECTIVE: The goal of this study was to assess retinal responses measured by electroretinogram (ERG) between HD patients and controls and evaluate any correlation between ERG measurements and stage of disease...
2017: Journal of Huntington's Disease
María Teresa Montojo, Miguel Aganzo, Nieves González
Although Huntington's disease (HD) is primarily considered a rare neurodegenerative disorder, it has been linked to glucose metabolism alterations and diabetes, as has been described in other neuro syndromes such as Friedreich's ataxia or Alzheimer's disease. This review surveys the existing literature on HD and its potential relationship with diabetes, glucose metabolism-related indexes and pancreas morphology, in humans and in animal's models. The information is reported in chronological sequence. That is, studies performed before and after the identification of the genetic defect underlying HD (CAG: encoding glutamine ≥36 repeats located in exon 1 of the HTT gene) and with the development and evolution of HD animal models...
2017: Journal of Huntington's Disease
Svetlana Maskevich, Ria Jumabhoy, Pierre D M Dao, Julie C Stout, Sean P A Drummond
Sleep disturbance occurs early in Huntington's disease (HD). Consumer- and research-grade activity monitors may enable routine assessment of sleep disturbances in HD. We compared Actiwatch Spectrum Pro, Jawbone UP2 and Fitbit One to the gold standard, polysomnography, in four late presymptomatic and three early HD participants. Compared to polysomnography, all ambulatory monitors overestimated total sleep time by >60 minutes and sleep efficiency by ∼15%. Thus, for assessment of specific sleep parameters in HD, none of the activity monitors are sufficiently accurate to replace polysomnography, although they may be sufficient for estimating overall sleep-wake patterns...
2017: Journal of Huntington's Disease
Celine M H Jona, Izelle Labuschagne, Emily-Clare Mercieca, Fiona Fisher, Cathy Gluyas, Julie C Stout, Sophie C Andrews
BACKGROUND: Family functioning in Huntington's disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. OBJECTIVE: The aim of the current study was to assess family functioning in HD families. METHODS: We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning...
2017: Journal of Huntington's Disease
Nicholas R Boileau, Julie C Stout, Janes S Paulsen, David Cella, Michael K McCormack, Martha A Nance, Samuel Frank, Jin-Shei Lai, Noelle E Carlozzi
BACKGROUND: Huntington's disease (HD), is a neurodegenerative disorder that is associated with cognitive, behavioral, and motor impairments that diminish health related quality of life (HRQOL). The HD-PRO-TRIADTM is a quality of life measure that assesses health concerns specific to individuals with HD. Preliminary psychometric characterization was limited to a convenience sample of HD participants who completed measures at home so clinician-ratings were unavailable. OBJECTIVES: The current study evaluates the reliability and validity of the HD-PRO-TRIADTM in a well-characterized sample of individuals with HD...
2017: Journal of Huntington's Disease
Andrew McGarry, Karl Kieburtz, Victor Abler, Igor D Grachev, Sanjay Gandhi, Peggy Auinger, Spyridon Papapetropoulos, Michael Hayden
BACKGROUND: Open-HART is an open-label extension of HART, a randomized, placebo-controlled, dose-ranging, parallel-group study. OBJECTIVE: To evaluate safety and exploratory efficacy of open-label pridopidine over 36 months in subjects with Huntington's disease (HD). METHODS: Open-HART subjects were treated with pridopidine 45 mg twice daily (BID). After initial evaluation by telephone (Week 1) and in person (Month 1), in-person visits occurred every 3 months, alternating between safety and clinical visits (safety plus Unified Huntington's Disease Rating Scale [UHDRS] assessment)...
2017: Journal of Huntington's Disease
(no author information available yet)
No abstract text is available yet for this article.
2017: Journal of Huntington's Disease
Sai S Chaganti, Elizabeth A McCusker, Clement T Loy
BACKGROUND: Although the typical age of onset for Huntington's disease (HD) is in the fourth decade, between 4.4-11.5% of individuals with HD have a late onset (over 60 years of age). Diagnosis of Late onset HD (LoHD) can be missed, due to the perceived low likelihood of HD in the over 60-year-olds. OBJECTIVE: To review the epidemiology, genotype and phenotype of LoHD. METHODS: We systematically searched MEDLINE, EMBASE and Web of Science (inception-November 2016)...
2017: Journal of Huntington's Disease
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