RSS Feed – Literature

Neurobiol Aging. 2021 Mar 10:S0197-4580(21)00084-1. doi: 10.1016/j.neurobiolaging.2021.03.001. Online ahead of print.ABSTRACTHuntington's disease and subcortical vascular dementia display similar dementing features, shaped by different degrees of striatal atrophy, deep white matter degeneration and tau pathology. To investigate the hypothesis that Huntington's disease transcriptomic hallmarks may provide a window into potential protective ... read more

J Neuroinflammation. 2021 Apr 19;18(1):94. doi: 10.1186/s12974-021-02147-6.ABSTRACTBACKGROUND: Neuroinflammation may contribute to the pathogenesis of Huntington's disease, given evidence of activated microglia and elevated levels of inflammatory molecules in disease gene carriers, even those many years from symptom onset. We have shown previously that monocytes from Huntington's disease patients are hyper-reactive ... read more

Front Cell Dev Biol. 2021 Apr 1;9:636506. doi: 10.3389/fcell.2021.636506. eCollection 2021.ABSTRACTAs neurons are highly energy-demanding cell, increasing evidence suggests that mitochondria play a large role in several age-related neurodegenerative diseases. Synaptic damage and mitochondrial dysfunction have been associated with early events in the pathogenesis of major neurodegenerative diseases, including Parkinson's ... read more

Biom J. 2021 Apr 19. doi: 10.1002/bimj.202000312. Online ahead of print.ABSTRACTFor Huntington disease, identification of brain regions related to motor impairment can be useful for developing interventions to alleviate the motor symptom, the major symptom of the disease. However, the effects from the brain regions to motor impairment may vary ... read more

Front Cell Dev Biol. 2021 Apr 1;9:657337. doi: 10.3389/fcell.2021.657337. eCollection 2021.ABSTRACTOne of the major Ca2+ signaling pathways is store-operated Ca2+ entry (SOCE), which is responsible for Ca2+ flow into cells in response to the depletion of endoplasmic reticulum Ca2+ stores. SOCE and its molecular components, including stromal interaction molecule proteins, ... read more

Elife. 2021 Apr 19;10:e64564. doi: 10.7554/eLife.64564. Online ahead of print.ABSTRACTMost research on neurodegenerative diseases has focused on neurons, yet glia help form and maintain the synapses whose loss is so prominent in these conditions. To investigate the contributions of glia to Huntington's disease (HD), we profiled the gene expression alterations ... read more

J Neurochem. 2021 Apr 19. doi: 10.1111/jnc.15366. Online ahead of print.ABSTRACTThe endoplasmic reticulum (ER)-localized Sigma-1 receptor (S1R) is neuroprotective in models of neurodegenerative diseases, among them Huntington disease (HD). Recent clinical trials in HD patients and preclinical studies in cellular and mouse HD models suggest a therapeutic potential for the ... read more

An extensive network of chaperones and other proteins maintain protein homeostasis and guard against inappropriate protein aggregation that is a hallmark of neurodegenerative diseases. Using a fluorescence resonance energy-based biosensor that simultaneously reports on intact cellular chaperone holdase activity and detrimental aggregation propensity, we investigated the buffering capacity of the ... read more

The serotonin transporter, SERT, catalyzes serotonin reuptake at the synapse to terminate neurotransmission via an alternating access mechanism, and SERT inhibitors are the most widely prescribed antidepressants. Here, deep mutagenesis is used to determine the effects of nearly all amino acid substitutions on human SERT surface expression and transport of ... read more

Neuroimage Clin. 2021 Apr 5;30:102658. doi: 10.1016/j.nicl.2021.102658. Online ahead of print.ABSTRACTWhite matter (WM) alterations have been identified as a relevant pathological feature of Huntington's disease (HD). Increasing evidence suggests that WM changes in this disorder are due to alterations in myelin-associated biological processes. Multi-compartmental analysis of the complex gradient-echo MRI ... read more

HD is a genetically inherited neurodegenerative disorder caused by expansion of a polyglutamine (polyQ) repeats in the exon-1 of huntingtin protein (HTT). The expanded polyQ enhances the amyloidogenic propensity of HTT exon 1 (HTTex1), which forms a heterogeneous mixture of assemblies with some being neurotoxic. While predominantly intracellular, monomeric and ... read more

ACS Med Chem Lett. 2021 Mar 31;12(4):534-535. doi: 10.1021/acsmedchemlett.1c00148. eCollection 2021 Apr 8.NO ABSTRACTPMID:33859791 | PMC:PMC8040037 | DOI:10.1021/acsmedchemlett.1c00148 ... read more

Acta Neuropathol Commun. 2021 Apr 14;9(1):70. doi: 10.1186/s40478-021-01172-z.ABSTRACTHuntington's disease (HD) is a late onset, inherited neurodegenerative disorder for which early pathogenic events remain poorly understood. Here we show that mutant exon 1 HTT proteins are recruited to a subset of cytoplasmic aggregates in the cell bodies of neurons in brain ... read more

Adv Sci (Weinh). 2021 Feb 24;8(7):2002944. doi: 10.1002/advs.202002944. eCollection 2021 Apr.ABSTRACTNeurological disorders are becoming a growing burden as society ages, and there is a compelling need to address this spiraling problem. Stem cell-based regenerative medicine is becoming an increasingly attractive approach to designing therapies for such disorders. The unique characteristics ... read more

Nutr Neurosci. 2021 Apr 15:1-11. doi: 10.1080/1028415X.2021.1913319. Online ahead of print.ABSTRACTBACKGROUND: Naringenin is a powerful antioxidant and anti-inflammatory flavonoid which has been widely used as a therapeutic agent in various toxic models. However, few studies have clearly discussed the neuromodulatory effects of naringenin against different neurodegenerative disorders.AIM: We investigated the ... read more

J Neurol. 2021 Apr 15. doi: 10.1007/s00415-021-10505-w. Online ahead of print.ABSTRACTBACKGROUND: Huntington disease prevalence was first estimated in Grampian, northern Scotland in 1984. Molecular testing has since increased ascertainment.OBJECTIVE: To estimate the prevalence of manifest Huntington disease and identified pre-symptomatic gene expansion carriers (IPGEC) in northern Scotland, and estimate the ... read more

FAN1 nuclease is a modifier of repeat expansion diseases, including Huntington's disease (HD), fragile X syndrome, and autism. The age of HD onset correlates with ongoing 'inchworm-like' repeat expansions (1-3 CAG units/event) in HD brains, and is regulated by three modifiers: The first two, repeat tract length and purity exert ... read more

Detecting neuro-degenerative disorders in early-stage and asymptomatic patients is challenging. Diffusion MRI (dMRI) has shown great success in generating biomarkers for cellular organization at the microscale level using complex biophysical models, but there has never been a consensus on a clinically usable standard model. Here, we propose a new framework ... read more

Wien Med Wochenschr. 2021 Apr 14. doi: 10.1007/s10354-021-00841-x. Online ahead of print.ABSTRACTHuntington Disease is a chronically progressive and neurodegenerative disease, which leads to death after 10 to 30 years of suffering and worsening. When suffering Huntington Disease the patient will experience physical, cognitive and psychological issues, so that the patient ... read more

Cell Rep. 2021 Apr 13;35(2):108980. doi: 10.1016/j.celrep.2021.108980.ABSTRACTThe huntingtin (HTT) protein transports various organelles, including vesicles containing neurotrophic factors, from embryonic development throughout life. To better understand how HTT mediates axonal transport and why this function is disrupted in Huntington's disease (HD), we study vesicle-associated HTT and find that it is ... read more

The flood mosquito, Aedes vexans (Diptera: Culicidae), native of Canada, and currently present in all continents, has a vector competence for 30 arboviruses, being responsible for transmitting diseases, like West Nile fever, Rift Valley fever, Saint Louis Encephalitis and Eastern Equine Encephalitis. Hence, knowing the structure and gene flow of ... read more

CNS Neurol Disord Drug Targets. 2021 Apr 12. doi: 10.2174/1871527320666210412155508. Online ahead of print.ABSTRACTHuntington's disease (HD) is a progressive neurodegenerative disorder which deteriorates the physical and mental abilities of the patients. It is an autosomal dominant disorder and is mainly caused by the expansion of a repeating CAG triplet. A ... read more

Neurobiol Dis. 2021 Apr 10:105367. doi: 10.1016/j.nbd.2021.105367. Online ahead of print.ABSTRACTSleep disruption is a common invisible symptom of neurological dysfunction in Huntington's disease (HD) that takes an insidious toll on well-being of patients. Here we used electroencephalography (EEG) to examine sleep in 6 year old OVT73 transgenic sheep (Ovis aries) ... read more

Background: Frontoparietal network (FPN) with multiple cortical nodes is involved in executive functions. Transcranial electrical stimulation (tES) can potentially modulate interactions between these nodes using frontoparietal synchronization (FPS). Here we used fMRI and computational head models (CHMs) to inform electrode montage and dosage selection in FPS. Methods: Sixty methamphetamine users ... read more

Advances in single-cell RNA-seq (scRNA-seq) technologies are enabling the construction of large-scale, human-annotated reference cell atlases, creating unprecedented opportunities to accelerate future research. However, effectively leveraging information from these atlases, such as clustering labels or cell type annotations, remains challenging due to substantial technical noise and sparsity in scRNA-seq measurements. ... read more

The age at onset of motor symptoms in Huntington disease (HD) is driven by HTT CAG repeat length but modified by other genes. We used exome sequencing of 683 HD patients with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We ... read more

J Huntingtons Dis. 2021 Apr 7. doi: 10.3233/JHD-200462. Online ahead of print.ABSTRACTBACKGROUND: The most advanced disease-modifying therapies (DMTs) in development for Huntington's disease (HD) require intrathecal (IT) administration, which may create or exacerbate bottlenecks in resource capacity.OBJECTIVE: To understand the readiness of healthcare systems for intrathecally administered HD DMTs in ... read more

Biometrics. 2021 Apr 9. doi: 10.1111/biom.13467. Online ahead of print.ABSTRACTThe presence of protein aggregates in cells is a known feature of many human age-related diseases, such as Huntington's disease. Simulations using fixed parameter values in a model of the dynamic evolution of expanded polyglutaime (PolyQ) proteins in cells have been ... read more

Background: Neuroimaging studies have consistently reported that stress-related disorders such as depression and anxiety impinge on the activity of emotion regulation networks, namely in the ventromedial prefrontal cortex (vmPFC). This circuitry is known to be extensively modulated by serotonin and it has been long shown that genetic polymorphisms in the ... read more

Huntington disease (HD) is a fatal neurodegenerative movement disorder caused by an expanded CAG repeat in the huntingtin gene (HTT). The mutant huntingtin protein is ubiquitously expressed, but only certain brain regions are affected. The hypothalamus has emerged as an important area of pathology with selective loss of neurons expressing ... read more

Sci Transl Med. 2021 Apr 7;13(588):eabb8920. doi: 10.1126/scitranslmed.abb8920.ABSTRACTHuntingtin (HTT)-lowering therapies hold promise to slow down neurodegeneration in Huntington's disease (HD). Here, we assessed the translatability and long-term durability of recombinant adeno-associated viral vector serotype 5 expressing a microRNA targeting human HTT (rAAV5-miHTT) administered by magnetic resonance imaging-guided convention-enhanced delivery in ... read more

Background: Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. Metabolic changes are associated with HD progression, and underlying mechanisms are not fully known. As the IKK{beta}/NF-kB pathway is an essential regulator of metabolism, we investigated the involvement of IKK{beta}, the ... read more

Millions of people worldwide suffer motor or sensory impairment due to stroke, spinal cord injury, multiple sclerosis, traumatic brain injury, diabetes, and motor neuron diseases such as ALS (amyotrophic lateral sclerosis). A brain-computer interface (BCI), which links the brain directly to a computer, offers a new way to study the ... read more

Protein aggregation is a hallmark of many neurodegenerative diseases. In order to cope with misfolding and aggregation, cells have evolved an elaborate network of molecular chaperones, composed of different families. But while chaperoning mechanisms for different families are well established, functional and regulatory diversification within chaperone families is still largely ... read more

Eur J Hum Genet. 2021 Apr 6. doi: 10.1038/s41431-021-00866-1. Online ahead of print.ABSTRACTJunctophilin-3 belongs to a triprotein junctional complex implicated in the regulation of neuronal excitability and involved in the formation of junctional membrane structures between voltage-gated ion channels and endoplasmic (ryanodine) reticular receptors. A monoallelic trinucleotide repeat expansion located ... read more

J Pharm Pharmacol. 2021 Apr 3:rgaa063. doi: 10.1093/jpp/rgaa063. Online ahead of print.ABSTRACTOBJECTIVES: Human brain is composed of 25% of the cholesterol & any dysfunction in brain cholesterol homeostasis contributes to neurodegenerative disorders such as Parkinson, Alzheimer's, Huntington's disease, etc. A growing literature indicates that alteration in neurotransmission & brain cholesterol ... read more

Front Mol Neurosci. 2021 Mar 17;14:556215. doi: 10.3389/fnmol.2021.556215. eCollection 2021.ABSTRACTAstrocytes are the most widely distributed and abundant glial cells in the central nervous system (CNS). Neurodegenerative diseases (NDDs) are a class of diseases with a slow onset, progressive progression, and poor prognosis. Common clinical NDDs include Alzheimer's disease (AD), Parkinson's ... read more

J Huntingtons Dis. 2021 Mar 30. doi: 10.3233/JHD-200452. Online ahead of print.ABSTRACTBACKGROUND: Current Huntington's disease (HD) measures are limited to subjective, episodic assessments conducted in clinic. Smartphones can enable the collection of objective, real-world data but their use has not been extensively evaluated in HD.OBJECTIVE: Develop and evaluate a smartphone ... read more

Front Synaptic Neurosci. 2021 Mar 18;13:618391. doi: 10.3389/fnsyn.2021.618391. eCollection 2021.ABSTRACTDysfunction at synapses is thought to be an early change contributing to cognitive, psychiatric and motor disturbances in Huntington's disease (HD). In neurons, mutant Huntingtin collects in aggregates and distributes to the same sites as wild-type Huntingtin including on membranes and ... read more

Aging Dis. 2021 Apr 1;12(2):425-440. doi: 10.14336/AD.2020.0714-1. eCollection 2021 Apr.ABSTRACTIn the last decades, the strong increase in the proportion of older people worldwide, and the increased prevalence of age associated degenerative diseases, have put a stronger focus on aging biology. In spite of important progresses in our understanding of the ... read more

J Huntingtons Dis. 2021 Feb 26. doi: 10.3233/JHD-210473. Online ahead of print.ABSTRACTHuntington's disease (HD) research is entering an exciting phase, with new approaches such as huntingtin lowering strategies and cell therapies on the horizon. Technological advances to direct the differentiation of stem cells to desired neural types have opened new ... read more

Mov Disord Clin Pract. 2021 Mar 8;8(3):493-494. doi: 10.1002/mdc3.13174. eCollection 2021 Apr.NO ABSTRACTPMID:33816689 | PMC:PMC8015905 | DOI:10.1002/mdc3.13174 ... read more

Mov Disord Clin Pract. 2021 Jan 31;8(3):352-360. doi: 10.1002/mdc3.13148. eCollection 2021 Apr.ABSTRACTBACKGROUND: Determination of disease onset in Huntington's disease is made by clinical experience. The diagnostic confidence level is an assessment regarding the certainty about the clinical diagnosis based on motor signs. A level of 4 means the rater has ... read more

Mov Disord Clin Pract. 2021 Feb 12;8(3):361-370. doi: 10.1002/mdc3.13147. eCollection 2021 Apr.ABSTRACTBACKGROUND: Apathy is a disorder of motivation common to Huntington's disease (HD). Recent conceptual frameworks suggest that apathy is not unitary but consists of discrete subtypes ("dimensions"). Which of the proposed dimensions are preferentially affected in HD, and how ... read more

Rev Neurosci. 2021 Apr 5. doi: 10.1515/revneuro-2021-0013. Online ahead of print.ABSTRACTHuntington's disease (HD) is a genetic, inexorably fatal neurodegenerative disease. Patient average survivability is up to 20 years after the onset of symptoms. Those who suffer from the disease manifest motor, cognitive, and psychiatric impairments. There is indirect evidence suggesting ... read more

Mov Disord Clin Pract. 2021 Mar 8;8(3):420-426. doi: 10.1002/mdc3.13178. eCollection 2021 Apr.ABSTRACTBACKGROUND: Identifying sex-related differences is critical for enhancing our understanding of factors that may impact prognosis and advance treatments in Huntington's disease (HD).OBJECTIVES: To investigate if sex-related differences exist in clinical HD.METHODS: Longitudinal study of the Enroll-HD database. Manifest ... read more

Neural Regen Res. 2021 Nov;16(11):2159-2169. doi: 10.4103/1673-5374.310673.ABSTRACTA review of recent animal models of Huntington's disease showed many microRNAs had altered expression levels in the striatum and cerebral cortex, and which were mostly downregulated. Among the altered microRNAs were miR-9/9*, miR-29b, miR-124a, miR-132, miR-128, miR-139, miR-122, miR-138, miR-23b, miR-135b, miR-181 (all ... read more

Int J Mol Sci. 2021 Mar 13;22(6):2929. doi: 10.3390/ijms22062929.ABSTRACTSulforaphane, a potent dietary bioactive agent obtainable from cruciferous vegetables, has been extensively studied for its effects in disease prevention and therapy. Sulforaphane potently induces transcription factor nuclear factor erythroid 2-related factor 2 (Nrf2)-mediated expression of detoxification, anti-oxidation, and immune system-modulating enzymes, ... read more

Int J Mol Sci. 2021 Mar 18;22(6):3107. doi: 10.3390/ijms22063107.ABSTRACTSirtuin 2 (SIRT2) has been associated to aging and age-related pathologies. Specifically, an age-dependent accumulation of isoform 3 of SIRT2 in the CNS has been demonstrated; however, no study has addressed the behavioral or molecular consequences that this could have on aging. ... read more

Int J Mol Sci. 2021 Mar 17;22(6):3064. doi: 10.3390/ijms22063064.ABSTRACTNeurotrophic factors (NTFs) are essential for cell growth, survival, synaptic plasticity, and maintenance of specific neuronal population in the central nervous system. Multiple studies have demonstrated that alterations in the levels and activities of NTFs are related to the pathology and symptoms ... read more

J Clin Med. 2021 Mar 4;10(5):1053. doi: 10.3390/jcm10051053.ABSTRACTBACKGROUND: Huntington's disease is a progressive neurodegenerative disorder that usually manifests in adulthood and is inherited in an autosomal dominant manner. The main aim of the study was to assess the psychometric properties of the 12-item WHO Disability Assessment Schedule (WHODAS) 2.0 in ... read more

Brain Sci. 2021 Mar 25;11(4):413. doi: 10.3390/brainsci11040413.ABSTRACTBackground: Reducing the progress of neurodegeneration is a key goal in Huntington´s disease (HD). A previously performed systematic screening for medications with neuroprotective features identified tricyclic antidepressants and neuroleptics as neuroprotective and mitochondrioprotective agents. Here, we analyzed the characteristics of disease manifestation, progression and ... read more

Pharmaceuticals (Basel). 2021 Mar 12;14(3):257. doi: 10.3390/ph14030257.ABSTRACTHuntington's disease (HD) is a monogenetic neurodegenerative disorder characterized by the accumulation of polyglutamine-expanded huntingtin (mHTT). There is currently no cure, and therefore disease-slowing remedies are sought to alleviate symptoms of the multifaceted disorder. Encouraging findings in Alzheimer's and Parkinson's disease on alpha-2 adrenoceptor ... read more

Int J Mol Sci. 2021 Mar 22;22(6):3214. doi: 10.3390/ijms22063214.ABSTRACTHuntington's disease is a rare neurodegenerative and autosomal dominant disorder. HD is caused by a mutation in the gene coding for huntingtin (Htt). The result is the production of a mutant Htt with an abnormally long polyglutamine repeat that leads to pathological ... read more

BMC Palliat Care. 2021 Apr 1;20(1):53. doi: 10.1186/s12904-021-00744-z.ABSTRACTBACKGROUND: Huntington's Disease (HD) is an incurable, progressive neuro-degenerative disease. For patients with HD access to palliative care services is limited, with dedicated Neuro-Palliative Care Services rare in Australia. We discuss the experiences of and benefits to a patient with late-stage HD admitted ... read more

Biol Psychiatry Cogn Neurosci Neuroimaging. 2021 Jan 11:S2451-9022(21)00004-5. doi: 10.1016/j.bpsc.2020.12.015. Online ahead of print.ABSTRACTBACKGROUND: In this study, we asked whether differences in striatal activity during a reinforcement learning (RL) task with gain and loss domains could be one of the earliest functional imaging features associated with carrying the Huntington's disease ... read more

Neurol Neuroimmunol Neuroinflamm. 2021 Apr 1;8(3):e984. doi: 10.1212/NXI.0000000000000984. Print 2021 May.ABSTRACTOBJECTIVE: To define the role played by microglia in different stages of Huntington disease (HD), we used the TSPO radioligand [11C]-ER176 and PET to evaluate microglial activation in relation to neurodegeneration and in relation to the clinical features seen at ... read more

J Neurochem. 2021 Apr 2. doi: 10.1111/jnc.15360. Online ahead of print.ABSTRACTConverging lines of evidence from several models, and post-mortem human brain tissue studies, support the involvement of the kynurenine pathway (KP) in Huntington's disease (HD) pathogenesis. Quantifying KP metabolites in HD biofluids is desirable, both to study pathobiology, and as ... read more

Neurotherapeutics. 2021 Apr 1. doi: 10.1007/s13311-021-01022-9. Online ahead of print.ABSTRACTPridopidine is a selective Sigma-1 receptor (S1R) agonist in clinical development for Huntington disease (HD) and amyotrophic lateral sclerosis. S1R is a chaperone protein localized in mitochondria-associated endoplasmic reticulum (ER) membranes, a signaling platform that regulates Ca2+ signaling, reactive oxygen species ... read more

Cell Biosci. 2021 Mar 31;11(1):64. doi: 10.1186/s13578-021-00577-6.ABSTRACTPosttranscriptional gene regulation includes mRNA transport, localization, translation, and regulation of mRNA stability. CPEB (cytoplasmic polyadenylation element binding) family proteins bind to specific sites within the 3'-untranslated region and mediate poly- and deadenylation of transcripts, activating or repressing protein synthesis. As part of ribonucleoprotein ... read more

Sci Adv. 2021 Mar 31;7(14):eabb0799. doi: 10.1126/sciadv.abb0799. Print 2021 Mar.ABSTRACTHuntington disease (HD) damages the corticostriatal circuitry in large part by impairing transport of brain-derived neurotrophic factor (BDNF). We hypothesized that improving vesicular transport of BDNF could slow or prevent disease progression. We therefore performed selective proteomic analysis of vesicles transported ... read more

J Pharm Pharmacol. 2021 Mar 6;73(3):310-321. doi: 10.1093/jpp/rgaa072.ABSTRACTOBJECTIVES: Hydrogen sulfide (H2S) is a neuromodulator that plays a protective role in multiple neurodegenerative diseases including Alzheimer's (AD) and Parkinson's (PD). However, the precise mechanisms underlying its effects against Huntington's disease (HD) are still questioned.This study aimed to examine the neuroprotective effects ... read more

Neurol Sci. 2021 Apr 1. doi: 10.1007/s10072-021-05217-y. Online ahead of print.ABSTRACTBACKGROUND: The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non-Asian populations. We have recently examined the prevalence of HD in the southern part of Sardinia, a large Italian Mediterranean island that is considered a genetic ... read more

Huntington's disease results from expansion of a glutamine-coding CAG tract in the huntingtin (HTT) gene, producing an aberrantly functioning form of HTT. Both wildtype and disease-state HTT form a hetero-dimer with HAP40 of unknown functional relevance. We demonstrate in vivo that HTT and HAP40 cellular abundance are coupled. Integrating data ... read more

Neurotherapeutics. 2021 Mar 30. doi: 10.1007/s13311-021-01023-8. Online ahead of print.ABSTRACTHuntington's disease (HD) is caused by an expansion of the CAG repeat in the huntingtin gene leading to preferential neurodegeneration of the striatum. Disease-modifying treatments are not yet available to HD patients and their development would be facilitated by translatable pharmacodynamic ... read more

Neuroimage. 2021 Mar 28:118008. doi: 10.1016/j.neuroimage.2021.118008. Online ahead of print.ABSTRACTHuntington's Disease (HD), an autosomal dominant genetic disorder caused by a mutation in the Huntingtin gene (HTT), displays a stereotyped topography in the human brain and a stereotyped progression, initially appearing in the striatum. Like other degenerative diseases, spatial topography of ... read more

Brain Plast. 2021 Feb 9;6(2):155-166. doi: 10.3233/BPL-200104.ABSTRACTNeurological disorders, including neurodegenerative diseases, have a significant negative impact on both patients and society at large. Since the prevalence of most of these disorders increases with age, the consequences for our aging population are only going to grow. It is now acknowledged that ... read more

J Med Chem. 2021 Mar 30. doi: 10.1021/acs.jmedchem.1c00114. Online ahead of print.ABSTRACTOur group has recently shown that brain-penetrant ataxia telangiectasia-mutated (ATM) kinase inhibitors may have potential as novel therapeutics for the treatment of Huntington's disease (HD). However, the previously described pyranone-thioxanthenes (e.g., 4) failed to afford selectivity over a vacuolar ... read more

J Clin Neurosci. 2021 Apr;86:58-63. doi: 10.1016/j.jocn.2020.12.025. Epub 2021 Jan 27.ABSTRACTHuntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset after ... read more

Front Pharmacol. 2021 Mar 10;12:643254. doi: 10.3389/fphar.2021.643254. eCollection 2021.ABSTRACTThe prevalence of neurodegenerative disease has increased significantly in recent years, and with a rapidly aging global population, this trend is expected to continue. These diseases are characterised by a progressive neuronal loss in the brain or peripheral nervous system, and generally ... read more

Case Rep Oncol. 2021 Mar 3;14(1):325-332. doi: 10.1159/000513744. eCollection 2021 Jan-Apr.ABSTRACTBrain tumors have long been considered one of the most prevalent causes of potentially reversible cognitive impairment. An accurate underlying cause of cognitive impairment due to brain tumor needs to be evaluated pragmatically. Patterns of cognitive impairment associated with brain ... read more

J Huntingtons Dis. 2021 Mar 23. doi: 10.3233/JHD-200466. Online ahead of print.ABSTRACTAlthough Huntington's disease (HD) is classically considered from the perspective of the motor syndrome, the cognitive changes in HD are prominent and often an early manifestation of disease. As such, investigating the underlying pathophysiology of cognitive changes may give ... read more

Huntingtons disease (HD) is an autosomal dominant neurodegenerative disorder with profound phenotypic characters. HD is at present incurable and there are several trials going on to find a cure. HD is caused when there is a mutation in the Huntingtin gene which is found to be associated with axonal transport. ... read more

J Enzyme Inhib Med Chem. 2021 Dec;36(1):856-868. doi: 10.1080/14756366.2021.1900160.ABSTRACTThe present study describes evaluation of epigenetic regulation by a small molecule as the therapeutic potential for treatment of Huntington's disease (HD). We identified 5-allyloxy-2-(pyrrolidin-1-yl)quinoline (APQ) as a novel SETDB1/ESET inhibitor using a combined in silico and in vitro cell based screening ... read more

Hum Mol Genet. 2021 Mar 26:ddab074. doi: 10.1093/hmg/ddab074. Online ahead of print.ABSTRACTSpinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the ataxin-1 protein. Recent genetic correlational studies have implicated DNA damage repair pathways in modifying the age at onset of disease symptoms ... read more

Huntington disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein. HTT is subject to multiple posttranslational modifications (PTMs) that regulate its cellular function. Mutating specific PTM sites within mutant HTT (mHTT) in ... read more

Int J Biol Macromol. 2021 Mar 22:S0141-8130(21)00646-2. doi: 10.1016/j.ijbiomac.2021.03.113. Online ahead of print.ABSTRACTMany neurodegenerative diseases are rooted in the activities of amyloid-like proteins which possess conformations that spread to healthy proteins. These include Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and amyotrophic lateral sclerosis (ALS). While their clinical ... read more

Neurology. 2021 Mar 25:10.1212/WNL.0000000000011888. doi: 10.1212/WNL.0000000000011888. Online ahead of print.NO ABSTRACTPMID:33766996 | DOI:10.1212/WNL.0000000000011888 ... read more

Sci Rep. 2021 Mar 25;11(1):6934. doi: 10.1038/s41598-021-85656-x.ABSTRACTHuntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded polyglutamine repeat in the huntingtin gene. The neuropathology of HD is characterized by the decline of a specific neuronal population within the brain, the striatal medium spiny neurons (MSNs). The origins ... read more

Neurology. 2021 Mar 25:10.1212/WNL.0000000000011893. doi: 10.1212/WNL.0000000000011893. Online ahead of print.ABSTRACTObjectiveTo assess the prevalence, timing and functional impact of psychiatric, cognitive and motor abnormalities in Huntington's disease (HD) gene carriers, we analysed retrospective clinical data from individuals with manifest HD.MethodsClinical features of HD patients were analysed for 6316 individuals in the ... read more

J Community Genet. 2021 Mar 25. doi: 10.1007/s12687-021-00523-6. Online ahead of print.ABSTRACTGenetic diseases are a family matter, requiring adjustment and management from the family system, particularly when the diagnosis is recent. Literature has evidenced the importance of the role of older relatives in families dealing with some genetic diseases; however, ... read more

Parkinsonism Relat Disord. 2021 Mar 20;85:91-94. doi: 10.1016/j.parkreldis.2021.03.008. Online ahead of print.ABSTRACTINTRODUCTION: Huntington's disease (HD) is a severe neurodegenerative disorder with no effective treatment. Minimally-invasive biomarkers such as blood neurofilament light chain (NfL) in HD are therefore needed to quantitatively characterize neuronal loss. NfL levels in HD are known to ... read more

PLoS One. 2021 Mar 25;16(3):e0248926. doi: 10.1371/journal.pone.0248926. eCollection 2021.ABSTRACT[This corrects the article DOI: 10.1371/journal.pone.0034805.].PMID:33765019 | DOI:10.1371/journal.pone.0248926 ... read more

Neurobiol Aging. 2021 Feb 12;102:32-49. doi: 10.1016/j.neurobiolaging.2021.02.006. Online ahead of print.ABSTRACTDiffusion MRI (dMRI) has been able to detect early structural changes related to neurological symptoms present in Huntington's disease (HD). However, there is still a knowledge gap to interpret the biological significance at early neuropathological stages. The purpose of this ... read more

PLoS One. 2021 Mar 24;16(3):e0249144. doi: 10.1371/journal.pone.0249144. eCollection 2021.ABSTRACTINTRODUCTION: Early Huntington's disease (HD) patients begin to show planning deficits even before motor alterations start to manifest. Generally, planning ability is associated with the functioning of anterior brain areas such as the medial prefrontal cortex. However, early HD neuropathology involves significant ... read more

Mol Brain. 2021 Mar 23;14(1):59. doi: 10.1186/s13041-021-00770-1.ABSTRACTIntracellular aggregates are a common pathological hallmark of neurodegenerative diseases such as polyglutamine (polyQ) diseases, amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), and multiple system atrophy (MSA). Aggregates are mainly formed by aberrant disease-specific proteins and are accompanied by accumulation of other aggregate-interacting proteins. ... read more

Mol Med Rep. 2021 May;23(5):395. doi: 10.3892/mmr.2021.12034. Epub 2021 Mar 24.ABSTRACTNeurodegenerative diseases are neurological disorders characterized by progressive neuronal degeneration, such as Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis and Huntington's disease. The neuronal damage caused by these diseases may be associated with abnormal alterations of connexins in glia. These ... read more

Transcription Factors (TFs) play a pivotal role in cell fate decision by coordinating distinct gene expression programs. Although most TFs act at the DNA regulatory layer, few TFs can bind RNA and modulate mRNA splicing. Yet, the mechanistic cues underlying TFs function in splicing remain elusive. Focusing on the Drosophila ... read more

Chaos. 2021 Jan;31(1):013121. doi: 10.1063/5.0021584.ABSTRACTHuntington's disease (HD), a genetically determined neurodegenerative disease, is positively correlated with eye movement abnormalities in decision making. The antisaccade conflict paradigm has been widely used to study response inhibition in eye movements, and reliable performance deficits in HD subjects have been observed, including a greater ... read more

Mov Disord. 2021 Mar 23. doi: 10.1002/mds.28522. Online ahead of print.ABSTRACTProminent neuropathological hallmarks of many adult-onset neurodegenerative diseases include the deposition and accumulation of misfolded proteins or conformers; however, their role in pathogenesis has remained unclear. This is in part due to the deceptive simplicity of the question and our ... read more

Nat Commun. 2021 Mar 22;12(1):1809. doi: 10.1038/s41467-021-22096-1.ABSTRACTDynamic membraneless compartments formed by protein condensates have multifunctional roles in cellular biology. Tools that inducibly trigger condensate formation have been useful for exploring their cellular function, however, there are few tools that provide inducible control over condensate disruption. To address this need we ... read more

Gait Posture. 2021 Mar 8;86:186-191. doi: 10.1016/j.gaitpost.2021.03.016. Online ahead of print.ABSTRACTBACKGROUND: Treadmill training may improve gait disorders associated with neurodegenerative diseases. In Parkinson's disease (PD), treadmill training alters gait patterns after one session, and long-term training improves gait parameters, fall risk, and quality of life.RESEARCH QUESTION: What is the feasibility ... read more

Neurobiol Dis. 2021 Mar 19:105336. doi: 10.1016/j.nbd.2021.105336. Online ahead of print.ABSTRACTIn Huntington's disease (HD), the mutant huntingtin (mHtt) accumulates as toxic aggregates in the striatum tissue, with deleterious effects on motor-coordination and cognitive functions. Reducing the levels of mHtt is therefore a promising therapeutic strategy. We have previously reported that ... read more

J Biol Chem. 2021 Mar 19:100567. doi: 10.1016/j.jbc.2021.100567. Online ahead of print.ABSTRACTMolecular chaperones maintain proteostasis by ensuring the proper folding of polypeptides. Loss of proteostasis has been linked to numerous neurodegenerative disorders including Alzheimer's, Parkinson's, and Huntington's disease. Hsp110 is related to the canonical Hsp70 class of protein folding molecular ... read more

Front Genet. 2021 Mar 4;12:585556. doi: 10.3389/fgene.2021.585556. eCollection 2021.ABSTRACTIn recent years, a substantial number of tissue microbiome studies have been published, mainly due to the recent improvements in the minimization of microbial contamination during whole transcriptome analysis. Another reason for this trend is due to the capability of next-generation sequencing ... read more

Sci Rep. 2021 Mar 9;11(1):5484. doi: 10.1038/s41598-021-84858-7.ABSTRACTKynurenine 3-monooxygenase (KMO) regulates the levels of neuroactive metabolites in the kynurenine pathway (KP), dysregulation of which is associated with Huntington's disease (HD) pathogenesis. KMO inhibition leads to increased levels of neuroprotective relative to neurotoxic metabolites, and has been found to ameliorate disease-relevant phenotypes ... read more

Sci Rep. 2021 Mar 9;11(1):5464. doi: 10.1038/s41598-021-84726-4.ABSTRACTSalivary cortisol dysrhythmias have been reported in some, but not all studies assessing hypothalamic-pituitary-adrenal (HPA) axis function in Huntington's disease (HD). These differences are presumed to be due to environmental influences on temporal salivary cortisol measurement. Further exploration of HPA-axis function using a more ... read more

Hum Mol Genet. 2021 Mar 22:ddab080. doi: 10.1093/hmg/ddab080. Online ahead of print.ABSTRACTHuman neurodegenerative proteinopathies are disorders associated with abnormal protein depositions in brain neurons. They include polyglutamine (polyQ) conditions such as Huntington's disease (HD) and α-synucleinopathies such as Parkinson's disease (PD). Overexpression of NMNAT/Nma1, an enzyme in the NAD+ biosynthetic ... read more

Mov Disord. 2021 Mar;36(3):788-789. doi: 10.1002/mds.28500.NO ABSTRACTPMID:33749915 | DOI:10.1002/mds.28500 ... read more

Nucleic Acids Res. 2021 Mar 22:gkab152. doi: 10.1093/nar/gkab152. Online ahead of print.ABSTRACTSomatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat expansion are potential therapeutic targets. Genes in the DNA mismatch repair pathway are ... read more