RSS Feed – Literature

Clin Case Rep. 2021 Jul 16;9(7):e04547. doi: 10.1002/ccr3.4547. eCollection 2021 Jul.ABSTRACTWe describe the case of a 59-year-old woman who exhibited psychotic symptoms, cognitive dysfunction, and restlessness. While the clinical picture and 18F-FDG PET/CT suggested the presence of a tauopathy, especially frontotemporal dementia or progressive supranuclear palsy, genetic testing eventually revealed ... read more

Front Mol Biosci. 2021 Jun 30;8:676187. doi: 10.3389/fmolb.2021.676187. eCollection 2021.ABSTRACTMitochondrial dysfunction is a central feature of neurodegeneration within the central and peripheral nervous system, highlighting a strong dependence on proper mitochondrial function of neurons with especially high energy consumptions. The fitness of mitochondria critically depends on preservation of distinct processes, ... read more

J Neurosci Rural Pract. 2021 Jul;12(3):581-585. doi: 10.1055/s-0041-1730086. Epub 2021 May 10.ABSTRACTBackground Little data are available on the spectrum of movement disorders in inpatients, particularly those admitted in neurology specialty. This may be related to the fact that patients presenting with movement disorders are usually evaluated from outpatient clinics. Objective ... read more

Hum Mol Genet. 2021 Jul 22:ddab200. doi: 10.1093/hmg/ddab200. Online ahead of print.ABSTRACTWe have previously established Induced Pluripotent Stem cell (iPSC) models of Huntington's Disease (HD), demonstrating CAG-repeat-expansion-dependent cell biological changes and toxicity. However, the current differentiation protocols are cumbersome and time consuming, making preparation of large quantities of cells for ... read more

Am J Hosp Palliat Care. 2021 Jul 22:10499091211034419. doi: 10.1177/10499091211034419. Online ahead of print.ABSTRACTBACKGROUND: People with Huntington's disease (HD) often become institutionalized and more frequently die away from the home setting. The reasons behind differences in end-of-life care are poorly understood. Less than 5% of people with HD report utilization ... read more

Neuropsychology. 2021 Jul 22. doi: 10.1037/neu0000757. Online ahead of print.ABSTRACTObjective: This study aimed to investigate how sleep and physical activity habits related to cognitive functioning, in naturalistic settings, in early Huntington's disease (HD). Method: Forty-two participants with the expanded HD repeat (20 manifest, 22 premanifest) and 29 healthy controls wore ... read more

Ann Clin Transl Neurol. 2021 Jul 20. doi: 10.1002/acn3.51424. Online ahead of print.ABSTRACTOBJECTIVE: Previous work in Huntington's disease (HD) has shown that a sense of meaning and purpose (M&P) is positively associated with positive affect and well-being (PAW); however, it was unknown whether HD-validated patient-reported outcomes (PROs) influence this association ... read more

Introduction: Comparisons of hypothalamic dysfunction between Huntingtons Disease (HD) patients and rodent models of HD have not always yielded similar results. Cortisol levels in HD patients have been contradictory, with reports ranging from hypo- to hypercorticoidism of morning measurements. Initial reports of major elevations in circulating corticosterone levels in the ... read more

Parkinsonism Relat Disord. 2021 Jul 14:S1353-8020(21)00258-3. doi: 10.1016/j.parkreldis.2021.07.009. Online ahead of print.NO ABSTRACTPMID:34281767 | DOI:10.1016/j.parkreldis.2021.07.009 ... read more

Autophagy. 2021 Jul 19:1-4. doi: 10.1080/15548627.2021.1953820. Online ahead of print.ABSTRACTHuntington disease (HD) manifests a unique macroautophagy/autophagy defect: the presense of cytosolic autophagosomes without substrates or so-called "empty" autophagosomes. It was proposed that mutant HTT (huntingtin; mHTT) disrupts cargo recognition by the selective autophagy receptor SQSTM1/p62 thus leading to the failure ... read more

Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(6):81-86. doi: 10.17116/202112106181.ABSTRACTHuntington's disease, or Huntington's chorea, is considered as an orphan disease. However, chorea is not the single, and in many cases, not the most severe sign of this disease. Along with motor symptoms, psychiatric symptoms make a significant contribution to patient ... read more

Front Cell Dev Biol. 2021 Jun 30;9:688128. doi: 10.3389/fcell.2021.688128. eCollection 2021.ABSTRACTBone marrow is the main hematopoietic organ that produces red blood cells, granulocytes, monocyte/macrophages, megakaryocytes, lymphocytes, and myeloid dendritic cells. Many of these cells play roles in the pathogenesis of Toxocara canis infection, and understanding how infection alters the dynamics ... read more

Front Neurosci. 2021 Jul 1;15:657338. doi: 10.3389/fnins.2021.657338. eCollection 2021.ABSTRACTHuntington's disease (HD) is a devastating, progressive, and fatal neurodegenerative disorder inherited in an autosomal dominant manner. This condition is characterized by motor dysfunction (chorea in the early stage, followed by bradykinesia, dystonia, and motor incoordination in the late stage), psychiatric disturbance, ... read more

Front Cell Dev Biol. 2021 Jul 1;9:642773. doi: 10.3389/fcell.2021.642773. eCollection 2021.ABSTRACTPolyglutamine (PolyQ) diseases are neurodegenerative disorders caused by the CAG repeat expansion mutation in affected genes resulting in toxic proteins containing a long chain of glutamines. There are nine PolyQ diseases: Huntington's disease (HD), spinocerebellar ataxias (types 1, 2, 3, ... read more

J Clin Med. 2021 Jul 5;10(13):3001. doi: 10.3390/jcm10133001.ABSTRACTHuntington's disease (HD) is an autosomal dominant genetic disease that can be divided into preclinical and symptomatic stages. Due to the diverse HD phenotype, there is an urgent need to identify markers that would independently assess its severity. The aim of this study ... read more

J Neuropsychiatry Clin Neurosci. 2021 Jul 19:appineuropsych20120309. doi: 10.1176/appi.neuropsych.20120309. Online ahead of print.ABSTRACTOBJECTIVE: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease that presents significant challenges to family communication. The investigators examined observations of communication between parents with HD and their offspring talking about the challenges of HD and explored ... read more

Neurobiol Dis. 2021 Jul 15:105447. doi: 10.1016/j.nbd.2021.105447. Online ahead of print.ABSTRACTHuntington's disease (HD) is a progressive, fatal neurodegenerative disorder characterized by motor, cognitive, and psychiatric disturbances. There is no known cure for HD, but its progressive nature allows for early therapeutic intervention. Currently, much of the research has focused on ... read more

Background: Huntington's disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance machinery. We examined a single nucleotide variant, rs79727797, ... read more

The misfolding and accumulation of disease-related proteins are common hallmarks among several neurodegenerative diseases. Alpha-synuclein (aSyn), Tau and huntingtin (wild-type and mutant, 25QHtt and 103QHtt, respectively) were recently shown to be transferred from cell-to-cell through different cellular pathways, thereby contributing to disease progression and neurodegeneration. However, the relative contribution of ... read more

Huntington disease (HD), a hereditary neurodegenerative disorder, manifests as progressively impaired movement and cognition. Although early abnormalities of neuronal activity in striatum are well established in HD models, there are fewer in vivo studies of the cortex. Here, we record local field potentials (LFPs) in YAC128 HD model mice versus ... read more

Hum Brain Mapp. 2021 Jul 17. doi: 10.1002/hbm.25595. Online ahead of print.ABSTRACTUltra-high field MRI across the depth of the cortex has the potential to provide anatomically precise biomarkers and mechanistic insights into neurodegenerative disease like Huntington's disease that show layer-selective vulnerability. Here we compare multi-parametric mapping (MPM) measures across cortical ... read more

Neuropharmacology. 2021 Jul 14:108719. doi: 10.1016/j.neuropharm.2021.108719. Online ahead of print.ABSTRACTGlutamate is the primary excitatory neurotransmitter of the brain. Cellular homeostasis of glutamate is of paramount importance for normal brain function and relies on an intricate metabolic collaboration between neurons and astrocytes. Glutamate is extensively recycled between neurons and astrocytes in ... read more

Handb Clin Neurol. 2021;182:245-255. doi: 10.1016/B978-0-12-819973-2.00017-4.ABSTRACTHuntington's disease (HD), an autosomal dominant hereditary disorder associated with the accumulation of mutant huntingtin, is classically associated with cognitive decline and motor symptoms, notably chorea. However, growing evidence suggests that nonmotor symptoms are equally prevalent and debilitating. Some of these symptoms may be linked ... read more

EXCLI J. 2021 Jun 9;20:1086-1090. doi: 10.17179/excli2021-3670. eCollection 2021.NO ABSTRACTPMID:34267617 | PMC:PMC8278213 | DOI:10.17179/excli2021-3670 ... read more

Neural Regen Res. 2022 Feb;17(2):237-245. doi: 10.4103/1673-5374.317957.ABSTRACTThe onset and mechanisms underlying neurodegenerative diseases remain uncertain. The main features of neurodegenerative diseases have been related with cellular and molecular events like neuronal loss, mitochondrial dysfunction and aberrant accumulation of misfolded proteins or peptides in specific areas of the brain. The most ... read more

Nat Commun. 2021 Jul 13;12(1):4272. doi: 10.1038/s41467-021-24411-2.ABSTRACTThe first exon of the huntingtin protein (HTTex1) important in Huntington's disease (HD) can form cross-β fibrils of varying toxicity. We find that the difference between these fibrils is the degree of entanglement and dynamics of the C-terminal proline-rich domain (PRD) in a mechanism ... read more

Neurosci Lett. 2021 Jul 10:136107. doi: 10.1016/j.neulet.2021.136107. Online ahead of print.ABSTRACTBACKGROUND AND OBJECTIVE: An accurate detection of neurodegenerative diseases (NDDs) definitely improves the life of patients and has attracted growing attention.METHODS: In this paper, a general automatic method for detection of Parkinson's disease (PD), Amyotrophic lateral sclerosis (ALS) and Huntington's ... read more

Psychedelics are thought to alter states of consciousness by disrupting how the higher association cortex governs bottom-up sensory signals. Individual hallucinogenic drugs are usually studied in participants in controlled laboratory settings. Here, we have explored word usage in 6,850 free-form testimonials with 27 drugs through the prism of 40 neurotransmitter ... read more

Asia Ocean J Nucl Med Biol. 2021 Spring;9(2):167-172. doi: 10.22038/AOJNMB.2020.52511.1362.ABSTRACTBrain metabolic imaging using 18F-fluorodeoxyglucose (FDG) Positron Emission Tomography (PET) with contemporaneous low-dose CT may be used to assess neurodegenerative diseases. In contrast to oncology whole-body FDG PET, qualitative assessment alone in brain FDG PET is subjective and vulnerable to visual ... read more

Front Aging Neurosci. 2021 Jun 23;13:674135. doi: 10.3389/fnagi.2021.674135. eCollection 2021.ABSTRACTHydrogen sulfide (H2S), originally considered a toxic gas, is now a recognized gasotransmitter. Numerous studies have revealed the role of H2S as a redox signaling molecule that controls important physiological/pathophysiological functions. The underlying mechanism postulated to serve as an explanation of ... read more

Neurol Genet. 2021 Jul 6;7(4):e603. doi: 10.1212/NXG.0000000000000603. eCollection 2021 Aug.ABSTRACTOBJECTIVE: Weight loss is associated with clinical progression in Huntington disease (HD), but whether body weight causally affects disease onset or progression is unknown. Therefore, we aimed to assess whether genetically determined variations in body weight are causally related to age ... read more

Mol Neurobiol. 2021 Jul 12. doi: 10.1007/s12035-021-02451-5. Online ahead of print.ABSTRACTSelective neuronal accumulation of misfolded proteins is a key step toward neurodegeneration in a wide range of neurodegenerative diseases, including Huntington's (HD) diseases. Our recent studies suggest that Hsp70-binding protein 1 (HspBP1), an Hsp70/CHIP inhibitor that reduces protein folding, is ... read more

Colloids Surf B Biointerfaces. 2021 Jul 7;206:111969. doi: 10.1016/j.colsurfb.2021.111969. Online ahead of print.ABSTRACTHuntington's disease (HD) is a fatal neurodegenerative disease caused by an extended polyglutamine (polyQ) domain within the first exon of the huntingtin protein (htt). PolyQ expansion directly invokes the formation of a heterogenous mixture of toxic htt aggregates, ... read more

Left-lateralized frontoparietal theta oscillations are thought to play an important role in verbal working memory. We causally tested this idea by stimulating the frontoparietal theta network at individual theta frequencies (4 to 8 Hz) during verbal working memory and observing the subsequent behavioral and neurophysiological effects. Weak electric currents were ... read more

Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene that encodes the pathologic mutant HTT (mHTT) protein with an expanded polyglutamine (PolyQ) tract. While several therapeutic programs targeting mHTT expression have advanced to clinical evaluation, no method is currently ... read more

Curr Drug Targets. 2021 Jul 7. doi: 10.2174/1389450122666210707120256. Online ahead of print.ABSTRACTMonoamine oxidase (MAO) is an enzyme that catalyzes the deamination of monoamines and other proteins. MAO's hyperactivation results in the massive generation of reactive oxygen species, which leads to a variety of neurological diseases such as Alzheimer's disease, Parkinson's ... read more

Gene Ther. 2021 Jul 8. doi: 10.1038/s41434-021-00276-4. Online ahead of print.ABSTRACTProtein misfolding and aggregation are shared features of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and protein quality control disruption contributes to neuronal toxicity. Therefore, reducing protein aggregation could hold therapeutic potential. We previously identified a novel chaperone protein, serine-rich ... read more

Front Neurosci. 2021 Jun 22;15:682172. doi: 10.3389/fnins.2021.682172. eCollection 2021.ABSTRACTThe deposition of mutant huntingtin (mHTT) protein aggregates in neurons of patients is a pathological hallmark of Huntington's disease (HD). Previous investigations in cell-free and cell-based disease models showed mHTT exon-1 (mHTTex1) fragments with pathogenic polyglutamine (polyQ) tracts (>40 glutamines) to self-assemble ... read more

Commun Biol. 2021 Jul 8;4(1):849. doi: 10.1038/s42003-021-02360-2.ABSTRACTHuntington disease (HD) is a neurodegenerative trinucleotide repeat disorder caused by an expanded poly-glutamine (polyQ) tract in the mutant huntingtin (mHTT) protein. The formation and topology of filamentous mHTT inclusions in the brain (hallmarks of HD implicated in neurotoxicity) remain elusive. Using cryo-electron tomography ... read more

Autophagy. 2021 Jul 9:1-23. doi: 10.1080/15548627.2021.1936359. Online ahead of print.ABSTRACTMacroautophagy/autophagy is an evolutionarily conserved pathway responsible for clearing cytosolic aggregated proteins, damaged organelles or invading microorganisms. Dysfunctional autophagy leads to pathological accumulation of the cargo, which has been linked to a range of human diseases, including neurodegenerative diseases, infectious and ... read more

J Community Genet. 2021 Jul 9. doi: 10.1007/s12687-021-00536-1. Online ahead of print.ABSTRACTLegal, financial and organizational challenges and the absence of coherent international guidelines and legal frameworks still discourage many genetic studies to share individual research results with their participants. Studies and institutions deciding to return genetic results will need to ... read more

Parkinsonism Relat Disord. 2021 Jun 19;89:73-78. doi: 10.1016/j.parkreldis.2021.06.015. Online ahead of print.ABSTRACTINTRODUCTION: Pain could be an unknown non-motor symptom in Huntington's Disease (HD). The aim is therefore, to study the prevalence of pain interference, painful conditions and analgesic use across the different stages of HD and compare these levels to ... read more

Transcriptional and cellular stress surveillance deficits are hallmarks of Huntington disease (HD), a fatal autosomal dominant neurodegenerative disorder, caused by a pathological expansion of CAG repeats in the Huntingtin (HTT) gene. The nucleolus, a dynamic nuclear biomolecular condensate and the site of ribosomal RNA (rRNA) transcription, is implicated in the ... read more

Acta Neuropathol Commun. 2021 Jul 7;9(1):124. doi: 10.1186/s40478-021-01224-4.ABSTRACTThe cellular and molecular mechanisms that drive neurodegeneration remain poorly defined. Recent clinical trial failures, difficult diagnosis, uncertain etiology, and lack of curative therapies prompted us to re-examine other hypotheses of neurodegenerative pathogenesis. Recent reports establish that mitochondrial and calcium dysregulation occur early ... read more

Appl Biochem Biotechnol. 2021 Jul 7. doi: 10.1007/s12010-021-03523-x. Online ahead of print.ABSTRACTHuntington's disease is a neurodegenerative autosomal disease results due to expansion of polymorphic CAG repeats in the huntingtin gene. Phosphorylation of the translation initiation factor 4E-BP results in the alteration of the translation control leading to unwanted protein synthesis ... read more

Neurosci Biobehav Rev. 2021 Jul 5:S0149-7634(21)00298-0. doi: 10.1016/j.neubiorev.2021.06.044. Online ahead of print.ABSTRACTCognitive decline (CD), which related to vascular dementia, Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis and diabetes mellitus, is a growing health concern that has a great impact on the patients' quality of life. Although extensive efforts, ... read more

Clin Neurol Neurosurg. 2021 Jun 25;207:106773. doi: 10.1016/j.clineuro.2021.106773. Online ahead of print.ABSTRACTWe present a case of Huntington's Disease (HD) with two reduced penetrance alleles and show that age of onset and motor symptoms are comparable to heterozygous patients with the same number of CAG triplet repeats. We performed a review ... read more

Head direction (HD) cells, key neuronal elements in the mammalian's navigation system, are hypothesized to act as a continuous attractor network, in which temporal coordination between cell members is maintained under different brain states or external sensory conditions, resembling a unitary neural representation of direction. Whether and how multiple identified ... read more

Cell Rep. 2021 Jul 6;36(1):109308. doi: 10.1016/j.celrep.2021.109308.ABSTRACTGlial pathology is a causal contributor to the striatal neuronal dysfunction of Huntington's disease (HD). We investigate mutant HTT-associated changes in gene expression by mouse and human striatal astrocytes, as well as in mouse microglia, to identify commonalities in glial pathobiology across species and ... read more

Handb Clin Neurol. 2021;179:315-329. doi: 10.1016/B978-0-12-819975-6.00020-0.ABSTRACTMelanopsin retinal ganglion cells (mRGCs) are the third class of retinal photoreceptors with unique anatomical, electrophysiological, and biological features. There are different mRGC subtypes with differential projections to the brain. These cells contribute to many nonimage-forming functions of the eye, the most relevant being the ... read more

Handb Clin Neurol. 2021;180:343-358. doi: 10.1016/B978-0-12-820107-7.00021-5.ABSTRACTHypocretin-1 and 2 (or orexin A and B) are neuropeptides exclusively produced by a group of neurons in the lateral and dorsomedial hypothalamus that project throughout the brain. In accordance with this, the two different hypocretin receptors are also found throughout the brain. The hypocretin ... read more

Handb Clin Neurol. 2021;180:389-400. doi: 10.1016/B978-0-12-820107-7.00024-0.ABSTRACTThe tuberomamillary nucleus (TMN) is located within the posterior part of the hypothalamus. The histamine neurons in it synthesize histamine by means of the key enzyme histidine decarboxylase (HDC) and from the TMN, innervate a large number of brain areas, such as the cerebral cortex, ... read more

Handb Clin Neurol. 2021;180:105-123. doi: 10.1016/B978-0-12-820107-7.00007-0.ABSTRACTThe supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus undergo structural and functional changes over the course of healthy aging. These nuclei and their connections are also heterogeneously affected by several different neurodegenerative diseases. This chapter reviews the involvement of the SON and PVN, ... read more

Expert Rev Proteomics. 2021 Jul 6:1-16. doi: 10.1080/14789450.2021.1948330. Online ahead of print.ABSTRACTIntroduction: Metabolomics focuses on interactions among different metabolites associated with various cellular functions in cells, tissues, and organs. In recent years, metabolomics has emerged as a powerful tool to identify perturbed metabolites, pathways influenced by the environment, for protein ... read more

J Am Coll Nutr. 2021 Jul 6:1-10. doi: 10.1080/07315724.2021.1910592. Online ahead of print.ABSTRACTSingle-point mutation diseases in which substitution of one nucleotide with another in a gene occurs include familial Alzheimer's disease (fAD), familial Parkinson's disease (fPD), and familial Creutzfeldt-Jacob disease (fCJD) as well as Huntington's disease (HD), sickle cell anemia, ... read more

Med Hypotheses. 2021 Jun 29;153:110639. doi: 10.1016/j.mehy.2021.110639. Online ahead of print.ABSTRACTHuntington disease (HD) is a type of neurodegenerative disease that is characterized by presence of multiple repeats (more than 36) of cytosine-adenine-guanine (CAG) trinucleotides and mutated huntingtin (mHtt). This can further lead to oxidative stress, enhancement in level of ROS/RNS, ... read more

Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):302-303. doi: 10.4103/aian.AIAN_182_20. Epub 2020 Jun 24.NO ABSTRACTPMID:34220100 | PMC:PMC8232501 | DOI:10.4103/aian.AIAN_182_20 ... read more

Front Pharmacol. 2021 Jun 17;12:665031. doi: 10.3389/fphar.2021.665031. eCollection 2021.ABSTRACTQuercetin (QUR) is a natural bioactive flavonoid that has been lately very studied for its beneficial properties in many pathologies. Its neuroprotective effects have been demonstrated in many in vitro studies, as well as in vivo animal experiments and human trials. QUR ... read more

MicroPubl Biol. 2021 Jun 29;2021:10.17912/micropub.biology.000413. doi: 10.17912/micropub.biology.000413.ABSTRACTExercise has been historically recommended to prevent many disease conditions. Intense exercise in particular, has been shown to be beneficial for Parkinson's disease (PD) - stopping and even reversing symptoms in some patients. Recent research in mammalian animal models of Parkinson's have shown that ... read more

Acta Neurol Scand. 2021 Jul 5. doi: 10.1111/ane.13498. Online ahead of print.ABSTRACTOBJECTIVES: Huntington's disease (HD) is a progressive neuropsychiatric disease characterized by involuntary movements and behavioural symptoms. This study aimed to explore the association between the level of Sense of Coherence (SOC) and health problems, and psychological distress factors in ... read more

The gating of movement depends on activity within the cortico-striato-thalamic loops. Within these loops, emerging from the cells of the striatum, run two opponent pathways - the direct and indirect basal ganglia pathway. Both are complex and polysynaptic but the overall effect of activity within these pathways is thought to ... read more

Mol Neurodegener. 2021 Jul 2;16(1):44. doi: 10.1186/s13024-021-00428-5.ABSTRACTNovel targets to arrest neurodegeneration in several dementing conditions involving misfolded protein accumulations may be found in the diverse signaling pathways of the Mammalian/mechanistic target of rapamycin (mTOR). As a nutrient sensor, mTOR has important homeostatic functions to regulate energy metabolism and support neuronal ... read more

Clin Genet. 2021 Jul 3. doi: 10.1111/cge.14024. Online ahead of print.ABSTRACTPerson-centered care (PCC) is recognized as a key component of the delivery of quality healthcare and a model for healthcare systems worldwide. The experience of illness through a person's perspective is one domain defining PCC contributing to a growing interest ... read more

BMC Med Genomics. 2021 Jul 2;14(1):176. doi: 10.1186/s12920-021-01022-w.ABSTRACTBACKGROUND: Huntingtin (Htt) protein is the product of the gene mutated in Huntington's disease (HD), a fatal, autosomal dominant, neurodegenerative disorder. Normal Htt is essential for early embryogenesis and the development of the central nervous system. However, the role of Htt in adult ... read more

Life (Basel). 2021 Jun 24;11(7):607. doi: 10.3390/life11070607.ABSTRACTNeurodegenerative diseases, including Alzheimer's disease, Huntington's disease, and Parkinson's disease, are a class of diseases that lead to dysfunction of cognition and mobility. Aggregates of misfolded proteins such as β-amyloid, tau, α-synuclein, and polyglutamates are known to be among the main causes of neurodegenerative ... read more

Int J Mol Sci. 2021 Jun 21;22(12):6620. doi: 10.3390/ijms22126620.ABSTRACTNeurodegenerative disorders (NDDs), including Alzheimer's, Parkinson's, and Huntington's diseases, are a highly prevalent class of disorders that share the presence of aberrant aggregates called amyloids in the nervous system [...].PMID:34205606 | DOI:10.3390/ijms22126620 ... read more

Brain Sci. 2021 Jun 24;11(7):838. doi: 10.3390/brainsci11070838.ABSTRACTHuntington's disease starts slowly and progresses over a 15-20 year period. Motor changes begin subtly, often going unnoticed by patients although they are typically visible to those close to them. At this point, it is the early non-motor problems of HD that arguably cause ... read more

Nutrients. 2021 Jun 29;13(7):2232. doi: 10.3390/nu13072232.ABSTRACTIn recent years, neurological and neurodegenerative disorders research has focused on altered molecular mechanisms in search of potential pharmacological targets, e.g., imbalances in mechanisms of response to oxidative stress, inflammation, apoptosis, autophagy, proliferation, differentiation, migration, and neuronal plasticity, which occur in less common neurological and ... read more

Cells. 2021 Jun 22;10(7):1565. doi: 10.3390/cells10071565.ABSTRACTHuntington's disease (HD) is a neurodegenerative disorder characterized by the progressive decline of motor, cognitive, and psychiatric functions. HD results from an autosomal dominant mutation that causes a trinucleotide CAG repeat expansion and the production of mutant Huntingtin protein (mHTT). This results in the initial ... read more

Int J Mol Sci. 2021 Jun 18;22(12):6545. doi: 10.3390/ijms22126545.ABSTRACTHuntington's disease (HD) is a multi-system disorder that is caused by expanded CAG repeats within the exon-1 of the huntingtin (HTT) gene that translate to the polyglutamine stretch in the HTT protein. HTT interacts with the proteins involved in gene transcription, endocytosis, ... read more

Int J Mol Sci. 2021 Jun 23;22(13):6725. doi: 10.3390/ijms22136725.ABSTRACTThe accumulation of aggregated protein is a typical hallmark of many human neurodegenerative disorders, including polyglutamine-related diseases such as chorea Huntington. Misfolding of the amyloidogenic proteins gives rise to self-assembled complexes and fibres. The huntingtin protein is characterised by a segment of ... read more

Diagnostics (Basel). 2021 Jun 7;11(6):1051. doi: 10.3390/diagnostics11061051.ABSTRACTThe Huntingtin gene (HTT) is within a class of genes containing a key region of CAG repeats. When expanded beyond 39 repeats, Huntington disease (HD) develops. Individuals with less than 35 repeats are not associated with HD. Increasing evidence has suggested that CAG repeats ... read more

Mol Neurobiol. 2021 Jul 2. doi: 10.1007/s12035-021-02472-0. Online ahead of print.ABSTRACTAutophagy is a catabolic pathway by which misfolded proteins or damaged organelles are engulfed by autophagosomes and then transported to lysosomes for degradation. Recently, a great improvement has been done to explain the molecular mechanisms and roles of autophagy in ... read more

Front Cell Neurosci. 2021 Jun 15;15:689332. doi: 10.3389/fncel.2021.689332. eCollection 2021.ABSTRACTHuntington disease (HD) is a monogenic disease that results in a combination of motor, psychiatric and cognitive symptoms. HD is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, which results in the production of a pathogenic mutant ... read more

J Clin Invest. 2021 Jul 1;131(13):143775. doi: 10.1172/JCI143775.ABSTRACTNeurodegenerative disorders (NDs) affect essential functions not only in the CNS, but also cause persistent gut dysfunctions, suggesting that they have an impact on both CNS and gut-innervating neurons. Although the CNS biology of NDs continues to be well studied, how gut-innervating neurons, ... read more

Front Genet. 2021 Jun 14;12:675587. doi: 10.3389/fgene.2021.675587. eCollection 2021.ABSTRACTCognitive aging is one of the major problems worldwide, especially as people get older. This study aimed to perform global gene expression profiling of cognitive function to identify associated genes and pathways and a novel transcriptional regulatory network analysis to identify important ... read more

Front Mol Neurosci. 2021 Jun 14;14:618171. doi: 10.3389/fnmol.2021.618171. eCollection 2021.ABSTRACTThe pathogenesis of neurodegenerative diseases (NDDs) is complex and diverse. Over the decades, our understanding of NDD has been limited to pathological features. However, recent advances in gene sequencing have facilitated elucidation of NDD at a deeper level. Gene editing techniques ... read more

PLoS One. 2021 Jul 1;16(7):e0253817. doi: 10.1371/journal.pone.0253817. eCollection 2021.ABSTRACTWeight-loss is an integral part of Huntington's disease (HD) that can start before the onset of motor symptoms. Investigating the underlying pathological processes may help in the understanding of this devastating disease as well as contribute to its management. However, the complex ... read more

J Neurol. 2021 Jun 30. doi: 10.1007/s00415-021-10691-7. Online ahead of print.NO ABSTRACTPMID:34191082 | DOI:10.1007/s00415-021-10691-7 ... read more

J Health Econ Outcomes Res. 2021 Jun 21;8(1):99-105. doi: 10.36469/001c.24620.ABSTRACTBackground: Chorea is recognized as a prototypic motor feature of Huntington's disease (HD), but its effect on health-related quality of life (HRQoL) has not been fully explored. This study describes the impact of chorea on HRQoL in patients with HD. Objective: ... read more

Iran J Biotechnol. 2021 Jan 1;19(1):e2630. doi: 10.30498/IJB.2021.2630. eCollection 2021 Jan.ABSTRACTBACKGROUND: Ankylosing spondylitis (AS) is a type of arthritis which can cause inflammation in the vertebrae and joints between the spine and pelvis. However, our understanding of the exact genetic mechanisms of AS is still far from being clear.OBJECTIVE: To ... read more

J Huntingtons Dis. 2021 Jun 22. doi: 10.3233/JHD-210485. Online ahead of print.ABSTRACTBACKGROUND: Huntington's disease (HD) is caused by an expanded (>35) CAG trinucleotide repeat in huntingtin (HTT). Age-at-onset of motor symptoms is inversely correlated with the size of the inherited CAG repeat, which expands further in brain regions due to ... read more

Eur J Med Chem. 2021 Jun 18;223:113655. doi: 10.1016/j.ejmech.2021.113655. Online ahead of print.ABSTRACTNatural phenolic compounds found in food have demonstrated interesting preventive and therapeutic effects on a large variety of pathologies. Indeed, some of them, such as resveratrol (RES), have been examined in clinical trials. Nevertheless, their success has been ... read more

Prog Mol Biol Transl Sci. 2021;182:403-438. doi: 10.1016/bs.pmbts.2020.12.006. Epub 2021 Jan 30.ABSTRACTThe recent advent of genome editing techniques and their rapid improvement paved the way in establishing innovative human neurological disease models and in developing new therapeutic opportunities. Human pluripotent (both induced or naive) stem cells and neural stem cells ... read more

Stress-induced release of dynorphins (Dyn) activates kappa opioid receptors (KOR) in monoaminergic neurons to produce dysphoria and potentiate drug reward; however, the circuit mechanisms responsible for this effect are not known. We found that conditional deletion of KOR from Slc6a4 (SERT)-expressing neurons blocked stress-induced potentiation of cocaine conditioned place preference ... read more

J Biol Chem. 2021 Jun 23:100914. doi: 10.1016/j.jbc.2021.100914. Online ahead of print.ABSTRACTGGGGCC (G4C2) hexanucleotide repeat expansions (HRE) in the endosomal trafficking gene C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat-associated non-AUG (RAN) translation of this expansion through near-cognate initiation codon usage ... read more

Arch Biochem Biophys. 2021 Jun 23:108977. doi: 10.1016/j.abb.2021.108977. Online ahead of print.ABSTRACTAs mitochondria are vulnerable to oxidative damage and represent the main source of reactive oxygen species (ROS), they are considered key tuners of ROS metabolism and buffering, whose dysfunction can progressively impact neuronal networks and disease. Defects in DNA ... read more

Hum Mol Genet. 2021 Jun 24:ddab170. doi: 10.1093/hmg/ddab170. Online ahead of print.ABSTRACTHuntington's disease (HD) is a devastating neurogenetic disorder whose familial nature and progressive course were first described in the 19th century but for which no disease-modifying treatment is yet available. Through the active participation of HD families, this disorder ... read more

NAR Genom Bioinform. 2021 Jun 22;3(2):lqab056. doi: 10.1093/nargab/lqab056. eCollection 2021 Jun.ABSTRACTThe importance of cell type-specific gene expression in disease-relevant tissues is increasingly recognized in genetic studies of complex diseases. However, most gene expression studies are conducted on bulk tissues, without examining cell type-specific expression profiles. Several computational methods are available ... read more

Commun Biol. 2021 Jun 23;4(1):771. doi: 10.1038/s42003-021-02304-w.ABSTRACTThe clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 system is a research hotspot in gene therapy. However, the widely used Streptococcus pyogenes Cas9 (WT-SpCas9) requires an NGG protospacer adjacent motif (PAM) for target recognition, thereby restricting targetable disease mutations. To address this issue, we recently ... read more

Sci Rep. 2021 Jun 23;11(1):13101. doi: 10.1038/s41598-021-92532-1.ABSTRACTHuntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder. Widespread white matter damage affects the brain of patients with HD at very early stages of the disease. Fixel-based analysis (FBA) is a novel method to investigate the contribution of individual crossing fibers to ... read more

Prog Neurobiol. 2021 Jun 21:102110. doi: 10.1016/j.pneurobio.2021.102110. Online ahead of print.ABSTRACTMitochondrial dysfunction is associated with neuronal damage in Huntington's disease (HD), but the precise mechanism of mitochondria-dependent pathogenesis is not understood yet. Herein, we found that colocalization of XIAP and p53 was prominent in the cytosolic compartments of normal subjects ... read more

Mol Biol Cell. 2021 Jun 23:mbcE20110747. doi: 10.1091/mbc.E20-11-0747. Online ahead of print.ABSTRACTA network of chaperones and ubiquitin ligases sustain intracellular proteostasis, and is integral in preventing aggregation of misfolded proteins associated with various neurodegenerative diseases. Using cell-based studies of polyglutamine (polyQ) diseases: Spinocerebellar ataxia Type 3 (SCA3) and Huntington's disease ... read more

Neurotherapeutics. 2021 Jun 23. doi: 10.1007/s13311-021-01075-w. Online ahead of print.ABSTRACTCAG repeat expansion is the genetic cause of nine incurable polyglutamine (polyQ) diseases with neurodegenerative features. Silencing repeat RNA holds great therapeutic value. Here, we developed a repeat-based RNA-cleaving DNAzyme that catalyzes the destruction of expanded CAG repeat RNA of six ... read more

J Am Chem Soc. 2021 Jun 23. doi: 10.1021/jacs.1c03108. Online ahead of print.ABSTRACTHuntington's disease is a neurodegenerative disorder caused by the expansion of a polyglutamine repeat (>36Q) in the N-terminal domain of the huntingtin protein (Htt), which renders the protein or fragments thereof more prone to aggregate and form inclusions. ... read more

Mov Disord. 2021 Jun 21. doi: 10.1002/mds.28686. Online ahead of print.ABSTRACTCyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the hydrolysis and inactivation of the cyclic nucleotides cyclic adenosine monophosphate and cyclic guanosine monophosphate, which act as intracellular second messengers for many signal transduction pathways in the central nervous system. Several classes of ... read more

Nat Biotechnol. 2021 Jun 21. doi: 10.1038/s41587-021-00987-4. Online ahead of print.NO ABSTRACTPMID:34155408 | DOI:10.1038/s41587-021-00987-4 ... read more

Front Pharmacol. 2021 Jun 4;12:657033. doi: 10.3389/fphar.2021.657033. eCollection 2021.ABSTRACTFerroptosis is a new form of programmed cell death characterized by intracellular iron-dependent accumulation of lipid peroxide and primarily associated with iron metabolism, glutathione-dependent pathway, and coenzyme Q10-dependent pathway. Recent studies demonstrate that ferroptosis is associated with central nervous system (CNS) diseases, ... read more

Front Cell Neurosci. 2021 Jun 3;15:680858. doi: 10.3389/fncel.2021.680858. eCollection 2021.ABSTRACTBacterial meningitis is an inflammation of the meninges which covers and protects the brain and the spinal cord. Such inflammation is mostly caused by blood-borne bacteria that cross the blood-brain barrier (BBB) and finally invade the brain parenchyma. Pathogens such as ... read more

Front Synaptic Neurosci. 2021 Jun 3;13:670467. doi: 10.3389/fnsyn.2021.670467. eCollection 2021.ABSTRACTSynapse degeneration in the striatum has been associated with the early stages of Parkinson's and Huntington's diseases (PD and HD). However, the molecular mechanisms that trigger synaptic dysfunction and loss are not fully understood. Increasing evidence suggests that deficiency in Wnt ... read more