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Journal of Huntington's Disease

Fiona C A Geraerts, Russell G Snell, Richard L M Faull, Liam Williams, Jessie C Jacobsen, Suzanne J Reid
Huntington's disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele...
October 1, 2016: Journal of Huntington's Disease
Allison M Keeler, Ellen Sapp, Kathryn Chase, Emily Sottosanti, Eric Danielson, Edith Pfister, Lorelei Stoica, Marian DiFiglia, Neil Aronin, Miguel Sena-Esteves
BACKGROUND: The genetic mutation in Huntington's disease (HD) is a CAG repeat expansion in the coding region of the huntingtin (Htt) gene. RNAi strategies have proven effective in substantially down-regulating Htt mRNA in the striatum through delivery of siRNAs or viral vectors based on whole tissue assays, but the extent of htt mRNA lowering in individual neurons is unknown. OBJECTIVE: Here we characterize the effect of an AAV9-GFP-miRHtt vector on Htt mRNA levels in striatal neurons of Q140/Q140 knock-in mice...
October 1, 2016: Journal of Huntington's Disease
Petr Vodicka, Kathryn Chase, Maria Iuliano, Adelaide Tousley, Dana T Valentine, Ellen Sapp, Kimberly B Kegel-Gleason, Miguel Sena-Esteves, Neil Aronin, Marian DiFiglia
BACKGROUND: Mutant huntingtin (mHTT) is encoded by the Huntington's disease (HD) gene and its accumulation in the brain contributes to HD pathogenesis. Reducing mHTT levels through activation of the autophagosome-lysosomal pathway may have therapeutic benefit. Transcription factor EB (TFEB) regulates lysosome biogenesis and autophagy. OBJECTIVE: To examine if increasing TFEB protein levels in HD mouse striatum induces autophagy and influences mHTT levels. METHODS: We introduced cDNA encoding TFEB with an HA tag (TFEB-HA) under the control of neuron specific synapsin 1 promoter into the striatum of 3 month old HDQ175/Q7 mice using adeno-associated virus AAV2/9...
October 1, 2016: Journal of Huntington's Disease
Marleen R van Walsem, Emilie I Howe, Jan C Frich, Nada Andelic
BACKGROUND: Assistive technology for cognition (ATC) can be defined as external devices aimed at supporting cognitive function. Studies in neurological populations suggest that use of ATC is a promising strategy to ameliorate negative effects of cognitive impairment and improve Health-related Quality of Life (HRQoL). There is a lack of studies on the effects of ATC in HD. OBJECTIVE: This study aimed to describe the use of ATC in patients with HD, and to investigate the association between ATC and HRQoL...
October 1, 2016: Journal of Huntington's Disease
Stephen J Sawiak, Nigel I Wood, A Jennifer Morton
BACKGROUND: Huntington's disease (HD) is caused by an unstable polyglutamine (CAG) repeat in the HD gene, whereby a CAG repeat length greater than ∼36 leads to the disease. In HD patients, longer repeats correlate with more severe disease and earlier death. This is also seen in R6/2 mice carrying repeat lengths up to ∼200. Paradoxically, R6/2 mice with repeat lengths >300 have a less aggressive phenotype and longer lifespan than those with shorter repeats. The mechanism underlying this phenomenon is unknown...
October 1, 2016: Journal of Huntington's Disease
Amit Kumar, Rajiv R Ratan
Redox homeostasis is crucial for proper cellular functions, including receptor tyrosine kinase signaling, protein folding, and xenobiotic detoxification. Under basal conditions, there is a balance between oxidants and antioxidants. This balance facilitates the ability of oxidants, such as reactive oxygen species, to play critical regulatory functions through a direct modification of a small number of amino acids (e.g. cysteine) on signaling proteins. These signaling functions leverage tight spatial, amplitude, and temporal control of oxidant concentrations...
October 1, 2016: Journal of Huntington's Disease
Fabian Kreilaus, Adena S Spiro, Anthony J Hannan, Brett Garner, Andrew M Jenner
BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative disease with no effective treatment or cure. Environmental enrichment has been used to slow processes leading to ageing and neurodegenerative diseases including HD. Phenolic phytochemicals including anthocyanins have also been shown to improve brain function in ageing and neurodegenerative diseases. OBJECTIVE: This study examined the effects of anthocyanin dietary supplementation and environmental enrichment on behavioural phenotypes and brain cholesterol metabolic alterations in the R6/1 mouse model of HD...
October 1, 2016: Journal of Huntington's Disease
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July 1, 2016: Journal of Huntington's Disease
Adelaide Tousley, Kimberly B Kegel-Gleason
Induced pluripotent stem cells (iPSCs) derived from controls and patients can act as a starting point for in vitro differentiation into human brain cells for discovery of novel targets and treatments for human disease without the same ethical limitations posed by embryonic stem cells. Numerous groups have successfully produced and characterized Huntington's disease (HD) iPSCs with different CAG repeat lengths, including cells from patients with one or two HD alleles. HD iPSCs and the neural cell types derived from them recapitulate some disease phenotypes found in both human patients and animal models...
June 28, 2016: Journal of Huntington's Disease
Jan C Frich, Daniela Rae, Richard Roxburgh, Zofia H Miedzybrodzka, Mary Edmondson, Erika Bjorklund Pope, LaVonne Goodman, Monica S Haddad, Joe Giuliano, Eugene C Nelson, Mark Guttman, Martha Nance
BACKGROUND: Little is known about the organization of clinical services for Huntington's disease (HD). OBJECTIVE: To describe how health care services are organized and delivered in HD-clinics taking part in or eligible for the Enroll-HD study. METHODS: In 2014, a 69-item survey was administered to sites taking part in or eligible for the Enroll-HD study. RESULTS: Of 231 sites surveyed, 121 (52.2%) sites in Europe, North America, Latin America, and Oceania responded...
June 27, 2016: Journal of Huntington's Disease
Kelly L Andrzejewski, Ariel V Dowling, David Stamler, Timothy J Felong, Denzil A Harris, Cynthia Wong, Hang Cai, Ralf Reilmann, Max A Little, Joseph T Gwin, Kevin M Biglan, E Ray Dorsey
BACKGROUND: The Unified Huntington's Disease Rating Scale (UHDRS) is the principal means of assessing motor impairment in Huntington disease but is subjective and generally limited to in-clinic assessments. OBJECTIVE: To evaluate the feasibility and ability of wearable sensors to measure motor impairment in individuals with Huntington disease in the clinic and at home. METHODS: Participants with Huntington disease and controls were asked to wear five accelerometer-based sensors attached to the chest and each limb for standardized, in-clinic assessments and for one day at home...
June 18, 2016: Journal of Huntington's Disease
Petr Vodicka, Kathryn Chase, Maria Iuliano, Dana T Valentine, Ellen Sapp, Boxun Lu, Kimberly B Kegel-Gleason, Miguel Sena-Esteves, Neil Aronin, Marian DiFiglia
BACKGROUND: Reducing mutant huntingtin (mHTT) in neurons may be a therapy for Huntington's disease (HD). Elevating NUB1 protein reduced mHTT levels in cell and fly models of HD through a proteasome dependent mechanism. OBJECTIVE: To examine the effects of augmenting NUB1 in HD mouse striatum on mHTT levels. METHODS: Striata of HDQ175/Q7 mice were injected at 3 months of age with recombinant AAV2/9 coding for NUB1 or GFP under the control of the neuron specific human synapsin 1 promoter and examined 6 months post-injection for levels of huntingtin, the striatal markers DARPP32 and PDE10A, the astrocyte marker GFAP, and the autophagy and mHTT aggregate marker P62 using immunolabeling of brain sections and Western blot assay of striatal subcellular fractions...
June 13, 2016: Journal of Huntington's Disease
Emma Yhnell, Stephen B Dunnett, Simon P Brooks
BACKGROUND: Huntington's disease (HD) is a rare, incurable neurodegenerative disorder caused by a CAG trinucleotide expansion with the first exon of the huntingtin gene. Numerous knock-in mouse models are currently available for modelling HD. However, before their use in scientific research, these models must be characterised to determine their face and predictive validity as models of the disease and their reliability in recapitulating HD symptoms. OBJECTIVE: Manifest HD is currently diagnosed upon the onset of motor symptoms, thus we sought to longitudinally characterise the progression and severity of motor signs in the HdhQ111 knock-in mouse model of HD, in heterozygous mice...
May 31, 2016: Journal of Huntington's Disease
Anna A M Hubers, Annette Hamming, Erik J Giltay, Margaret von Faber, Raymund A C Roos, Rose C van der Mast, Erik van Duijn
BACKGROUND: Huntington's disease (HD) mutation carriers are at increased risk of suicidal ideation, suicide attempts, and completed suicide. However, research is lacking on coping strategies and treatment options that can be offered to suicidal HD mutation carriers. OBJECTIVE: This study explores how individuals with pre-motor or motor symptomatic HD cope with suicidality, how their partners support them, and their ideas and wishes regarding how relatives and healthcare professionals can help them in coping with suicidality...
May 31, 2016: Journal of Huntington's Disease
Viktor Billes, Tibor Kovács, Bernadette Hotzi, Anna Manzéger, Kinga Tagscherer, Marcell Komlós, Anna Tarnóci, Zsolt Pádár, Attila Erdős, Annamaria Bjelik, Adam Legradi, Károly Gulya, Balázs Gulyás, Tibor Vellai
BACKGROUND: Autophagy, a lysosome-mediated self-degradation process of eukaryotic cells, serves as a main route for the elimination of cellular damage [1-3]. Such damages include aggregated, oxidized or misfolded proteins whose accumulation can cause various neurodegenerative pathologies, including Huntington's disease (HD). OBJECTIVE: Here we examined whether enhanced autophagic activity can alleviate neurophatological features in a Drosophila model of HD (the transgenic animals express a human mutant Huntingtin protein with a long polyglutamine repeat, 128Q)...
May 7, 2016: Journal of Huntington's Disease
April L Philpott, Sophie C Andrews, Mathew Staios, Andrew Churchyard, Fiona Fisher
BACKGROUND: Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by motor, cognitive and neuropsychiatric symptoms. Recent research has established that individuals with HD display reduced discrimination of emotional facial expressions and impaired higher-order social cognitive skills, including 'theory of mind'. OBJECTIVE: This study aimed to further characterise the emotion evaluation and theory of mind deficits in HD in an ecologically-valid context, and determine their impact on socially-relevant functional abilities...
May 3, 2016: Journal of Huntington's Disease
Kiersten L Berggren, Zhen Lu, Julia A Fox, Megan Dudenhoeffer, Sonal Agrawal, Jonathan H Fox
BACKGROUND: Dysregulation of iron homeostasis is implicated in the pathogenesis of Huntington's disease. We have previously shown that increased iron intake in R6/2 HD neonatal mice, but not adult R6/2 HD mice potentiates disease outcomes at 12-weeks of age corresponding to advanced HD [Redox Biol. 2015;4 : 363-74]. However, whether these findings extend to other HD models is unknown. In particular, it is unclear if increased neonatal iron intake can promote neurodegeneration in mouse HD models where disease onset is delayed to mid-adult life...
2016: Journal of Huntington's Disease
Jane Y Chen, Conny Tran, Lin Hwang, Gang Deng, Michael E Jung, Kym F Faull, Michael S Levine, Carlos Cepeda
BACKGROUND: Huntington's disease (HD) is a fatal, inherited neurodegenerative disorder characterized by uncontrollable dance-like movements, as well as cognitive deficits and mood changes. A feature of HD is a metabolic disturbance that precedes neurological symptoms. In addition, brain cholesterol synthesis is significantly reduced, which could hamper synaptic transmission. OBJECTIVE: Alterations in lipid metabolism as a potential target for therapeutic intervention in the R6/2 mouse model of HD were examined...
2016: Journal of Huntington's Disease
Elizabeth A Skillings, A Jennifer Morton
BACKGROUND: Impairments in energy metabolism are implicated in Huntington's disease (HD) pathogenesis. Reduced levels of the mitochondrial enzyme succinate dehydrogenase (SDH), the main element of complex II, are observed post mortem in the brains of HD patients, and energy metabolism defects have been identified in both presymptomatic and symptomatic HD patients. OBJECTIVE: Chemical preconditioning with 3-nitropropionic acid (3-NP), an irreversible inhibitor of SDH, has been shown to increase tolerance against experimental hypoxia in both heart and brain...
2016: Journal of Huntington's Disease
Lauren M Byrne, Edward J Wild
Cerebrospinal fluid (CSF) is enriched in brain-derived components and represents an accessible and appealing means of interrogating the CNS milieu to study neurodegenerative diseases and identify biomarkers to facilitate the development of novel therapeutics. Many such CSF biomarkers have been proposed for Huntington's disease (HD) but none has been validated for clinical trial use. Across many studies proposing dozens of biomarker candidates, there is a notable lack of statistical power, consistency, rigor and validation...
2016: Journal of Huntington's Disease
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