RSS Feed – Literature

J Cent Nerv Syst Dis. 2022 May 21;14:11795735221092517. doi: 10.1177/11795735221092517. eCollection 2022.ABSTRACTHuntington's disease (HD) is an autosomal neurodegenerative disease that is characterized by an excessive number of CAG trinucleotide repeats within the huntingtin gene (HTT). HD patients can present with a variety of symptoms including chorea, behavioural and psychiatric abnormalities ... read more

Mol Neurobiol. 2022 May 27. doi: 10.1007/s12035-022-02882-8. Online ahead of print.ABSTRACTThe aim of the present review article is to summarize the role of nanodiamonds in various neurological diseases. We have taken related literature of making this review article from ScienceDirect, springer, Research gate, PubMed, Sci-finder, etc. The current approaches for ... read more

Fertil Steril. 2022 May 23:S0015-0282(22)00194-7. doi: 10.1016/j.fertnstert.2022.03.010. Online ahead of print.ABSTRACTOBJECTIVE: To investigate if in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease is cost effective for heterozygous individuals with Huntington disease vs. unassisted conception with prenatal diagnosis.DESIGN: Cost-effectiveness analysis in a theoretical cohort of 3,851 couples, where ... read more

J Med Econ. 2022 May 24:1-13. doi: 10.1080/13696998.2022.2076997. Online ahead of print.ABSTRACTAims: Quantify healthcare resource utilization (HRU) and costs by disease stage in individuals with Huntington's disease (HD) in a US population.Materials and methods: This retrospective cohort study used administrative claims data from the IBM® MarketScan® Commercial, Multi-State Medicaid and ... read more

Neuropathology. 2022 May 23. doi: 10.1111/neup.12811. Online ahead of print.ABSTRACTThe presence of polyglutamine-immunoreactive deposits in neurons of the neostriatum has been reported in dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), and Huntington disease (HD). However, among these diseases, precise quantitative investigations on neurons have been performed only for HD. Changes in ... read more

Neurosci Bull. 2022 May 24. doi: 10.1007/s12264-022-00880-3. Online ahead of print.ABSTRACTHuntington's disease (HD) is an autosomal dominantly-inherited neurodegenerative disease, which is caused by CAG trinucleotide expansion in exon 1 of the Huntingtin (HTT) gene. Although HD is a rare disease, its monogenic nature makes it an ideal model in which ... read more

ACS Omega. 2022 May 4;7(19):16260-16269. doi: 10.1021/acsomega.1c03378. eCollection 2022 May 17.ABSTRACTNeurodegenerative disorders, caused by prone-to-aggregation proteins, such as Alzheimer disease or Huntington disease, share other traits such as disrupted homeostasis of essential metal ions, like copper. In this context, in an attempt to identify Cu2+ chelating agents, we study several ... read more

IEEE Trans Biomed Eng. 2022 May 23;PP. doi: 10.1109/TBME.2022.3177396. Online ahead of print.ABSTRACTOBJECTIVE: The ability to differentiate similar choreic involuntary movements could lay the groundwork for the development of a minimally-invasive screening tool for their etiology and provide in-depth understandings of pathophysiology. As a first step, we investigate kinematic differences ... read more

Brain Behav. 2022 May 23:e2630. doi: 10.1002/brb3.2630. Online ahead of print.ABSTRACTINTRODUCTION: We compared neuropsychiatric symptoms between child and adolescent huntingtin gene-mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between neuropsychiatric traits and striatal development.METHODS: Participants between 6 and 18 years ... read more

Rev Neurol (Paris). 2022 May 18:S0035-3787(22)00570-7. doi: 10.1016/j.neurol.2022.03.009. Online ahead of print.NO ABSTRACTPMID:35597611 | DOI:10.1016/j.neurol.2022.03.009 ... read more

Front Aging Neurosci. 2022 May 3;14:750629. doi: 10.3389/fnagi.2022.750629. eCollection 2022.ABSTRACTRepeat diseases, such as fragile X syndrome, myotonic dystrophy, Friedreich ataxia, Huntington disease, spinocerebellar ataxias, and some forms of amyotrophic lateral sclerosis, are caused by repetitive DNA sequences that are expanded in affected individuals. The age at which an individual begins ... read more

Radiol Case Rep. 2022 May 9;17(7):2460-2463. doi: 10.1016/j.radcr.2022.03.109. eCollection 2022 Jul.ABSTRACTFluorine-18 N-3-fluoropropyl-2-beta-carboxymethoxy-3-beta-(4-iodophenyl) nortropane (18F- FP CIT) has been used for the differential diagnosis of atypical parkinsonian disorders, and Technetium 99m ethyl cysteinate dimer (99mTc- ECD) has been used for evaluation of cerebral blood flow. A 60-year-old female with a history ... read more

PLoS One. 2022 May 19;17(5):e0268581. doi: 10.1371/journal.pone.0268581. eCollection 2022.ABSTRACTGait asymmetry is present in several pathological populations, including those with Parkinson's disease, Huntington's disease, and stroke survivors. Previous studies suggest that commonly used discrete symmetry metrics, which compare single bilateral variables, may not be equally sensitive to underlying effects of asymmetry, ... read more

PLoS One. 2022 May 19;17(5):e0266902. doi: 10.1371/journal.pone.0266902. eCollection 2022.ABSTRACTWhen listening to music, we often feel a strong desire to move our body in relation to the pulse of the rhythm. In music psychology, this desire to move is described by the term groove. Previous research suggests that the sensation of ... read more

Clin Biomech (Bristol, Avon). 2022 Apr 26;96:105658. doi: 10.1016/j.clinbiomech.2022.105658. Online ahead of print.ABSTRACTBACKGROUND: Postural control impairments begin early in Huntington's disease yet measures most sensitive to progression have not been identified. The aims of this study were to: 1) evaluate postural control and gait in people with and without Huntington's ... read more

Exp Anim. 2022 May 17. doi: 10.1538/expanim.22-0011. Online ahead of print.ABSTRACTWe previously showed that a diet containing calcium carbonate causes impairments in spatial and recognition memory in mice. In this study, we investigated the effects of calcium carbonate supplementation on motor function. Motor function was determined using different tests that ... read more

Mov Disord. 2022 May 17. doi: 10.1002/mds.29058. Online ahead of print.ABSTRACTNeurodegenerative proteinopathies are defined as a class of neurodegenerative disorders, with either genetic or sporadic age-related onset, characterized by the pathological accumulation of aggregated protein deposits. These mainly include Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Huntington's ... read more

Parkinsonism Relat Disord. 2022 May 13;99:23-29. doi: 10.1016/j.parkreldis.2022.05.003. Online ahead of print.ABSTRACTOBJECTIVE: Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and altered social cognition are proposed to be caused by dysfunction of the hypothalamus. We measured the hypothalamic neuropeptide oxytocin ... read more

J Neurol Sci. 2022 May 4;438:120274. doi: 10.1016/j.jns.2022.120274. Online ahead of print.ABSTRACTCentenarians are the best example of successful aging, reaching extreme longevity escaping age-related diseases. Genome sequencing studies provided evidence for genetic factors linked to heathy long life, including genes related to age-dependent diseases. HTT (Huntingtin) gene is linked to ... read more

We have developed a novel inducible Huntington's disease (HD) mouse model that allows temporal control of whole-body allele-specific mutant Huntingtin (mHtt) expression. We asked whether moderate global lowering of mHtt (~50%) was sufficient for long-term amelioration of HD-related deficits and, if so, whether early mHtt lowering (before measurable deficits) was ... read more

Pathophysiology associated with Huntington's disease (HD) has been studied extensively in various cell and animal models since the 1993 discovery of the mutant huntingtin (mHtt) with abnormally expanded polyglutamine (polyQ) tracts as the causative factor. However, the sequence of early pathophysiological events leading to HD still remains elusive. To gain ... read more

J Huntingtons Dis. 2022 May 9. doi: 10.3233/JHD-229002. Online ahead of print.ABSTRACTIn this edition of the Huntington's Disease Clinical Trials Corner we expand on GENERATION HD1, PRECISION-HD1 and PRECISION-HD2, SELECT-HD, and VIBRANT-HD trials, and list all currently registered and ongoing clinical trials in Huntington's disease.PMID:35570498 | DOI:10.3233/JHD-229002 ... read more

J Huntingtons Dis. 2022 May 7. doi: 10.3233/JHD-210523. Online ahead of print.ABSTRACTBACKGROUND: Health information-seeking is a coping strategy used globally by individuals with a personal or family history of a medical condition, including Huntington's disease (HD).OBJECTIVE: We sought to ascertain information-seeking practices of young people who grew up at-risk for ... read more

J Huntingtons Dis. 2022 May 7. doi: 10.3233/JHD-210481. Online ahead of print.ABSTRACTBACKGROUND: Long-term Huntington's disease (HD) care is offered in specialized inpatient nursing home units with a focus on individually perceived quality of life (QoL). This is shaped in daily care and interaction, which is often abstract and intangible. Furthermore, ... read more

J Huntingtons Dis. 2022 May 13. doi: 10.3233/JHD-220537. Online ahead of print.ABSTRACTBACKGROUND: Depression is a common neuropsychiatric syndrome in Huntington's disease (HD) and has debilitating consequences, including poorer sleep, exacerbation of cognitive and functional decline, and suicidality. To date, no published studies have documented the lived experience of depression in ... read more

PLoS One. 2022 May 16;17(5):e0268159. doi: 10.1371/journal.pone.0268159. eCollection 2022.ABSTRACTBACKGROUND: Despite the discovery of familial cases with mutations in Cu/Zn-superoxide dismutase (SOD1), Guanine nucleotide exchange C9orf72, TAR DNA-binding protein 43 (TARDBP) and RNA-binding protein FUS as well as a number of other genes linked to Amyotrophic Lateral Sclerosis (ALS), the etiology ... read more

Eur J Pharmacol. 2022 May 12:175025. doi: 10.1016/j.ejphar.2022.175025. Online ahead of print.ABSTRACTDimethyl fumarate (DMF) is an antioxidative and anti-inflammatory drug approved for treatment of multiple sclerosis and psoriasis; however, beneficial effects of DMF have also been found in other inflammatory diseases and cancers. DMF is a prodrug that is immediately ... read more

Cells. 2022 May 7;11(9):1578. doi: 10.3390/cells11091578.ABSTRACTNovel, neuroprotective uses of Copaxone (generic name: glatiramer acetate-GA) are being examined, primarily in neurological conditions involving cognitive decline. GA is a well-studied synthetic copolymer that is FDA-approved for immune-based treatment of relapsing remitting multiple sclerosis (RRMS). Clinical studies have explored the potential mechanism of ... read more

Int J Mol Sci. 2022 Apr 25;23(9):4718. doi: 10.3390/ijms23094718.ABSTRACTMicroRNAs (miRNAs) are essential post-transcriptional gene regulators involved in various neuronal and non-neuronal cell functions and play a key role in pathological conditions. Numerous studies have demonstrated that miRNAs are dysregulated in major neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, multiple ... read more

Cells. 2022 May 1;11(9):1520. doi: 10.3390/cells11091520.ABSTRACTRas homolog gene family member A (RhoA) is a small GTPase of the Rho family involved in regulating multiple signal transduction pathways that influence a diverse range of cellular functions. RhoA and many of its downstream effector proteins are highly expressed in the nervous system, ... read more

Int J Mol Sci. 2022 Apr 27;23(9):4804. doi: 10.3390/ijms23094804.ABSTRACTA set of guanine-rich aptamers able to preferentially recognize full-length huntingtin with an expanded polyglutamine tract has been recently identified, showing high efficacy in modulating the functions of the mutated protein in a variety of cell experiments. We here report a detailed ... read more

J Neurol. 2022 May 14. doi: 10.1007/s00415-022-11148-1. Online ahead of print.ABSTRACTOBJECTIVES: Using brief samples of speech recordings, we aimed at predicting, through machine learning, the clinical performance in Huntington's Disease (HD), an inherited Neurodegenerative disease (NDD).METHODS: We collected and analyzed 126 samples of audio recordings of both forward and backward ... read more

Appl Neuropsychol Adult. 2022 May 13:1-10. doi: 10.1080/23279095.2022.2073824. Online ahead of print.ABSTRACTThis study sought to investigate if there was a significant difference between the Huntington's Disease gene expansion carriers who were impaired on the cognitive domains, social cognition and executive functions. Also, it was investigated which of the cognitive domains ... read more

FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.R5558.ABSTRACTGPR52 is an orphan class-A G protein-coupled receptor that activates the Gs /cAMP signaling pathway and is primarily co-expressed in the human striatum with the dopamine D2 receptor. The unique expression profile of GPR52 has distinguished this orphan receptor as a promising drug ... read more

FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.R6000.ABSTRACTPrions are self-propagating aggregates of misfolded protein that often form ordered amyloids. Amyloids are associated with a variety of human neurodegenerative diseases, including but not limited to Alzheimer's disease, Huntington's disease, and Parkinson's disease. Amyloid-forming prions are also present in Saccharomyces cerevisiae, where ... read more

FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.R4654.ABSTRACTPrions are a class of misfolded proteins that form protein aggregates that are infectious and can self-propagate, causing human diseases like Creutzfeldt-Jakob. Additionally, many other diseases are known to involve protein misfolding and formation of amyloid aggregates as a characteristic of their pathology. ... read more

FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.0R825.ABSTRACTThe brain expressed ubiquilins (UBQLNs) 1, 2 and 4 are a family of ubiquitin adaptor proteins that participate broadly in protein quality control (PQC) pathways, including the ubiquitin proteasome system (UPS). One family member, UBQLN2, plays a role in numerous neurodegenerative diseases including ... read more

FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.0I152.ABSTRACTMembrane lipids move from one compartment to another within cells as part of the membranes of vesicular carriers. However, this mode of lipid traffic is complemented by the action of lipid transport proteins that often act at membrane contact sites. Typically, lipid transport ... read more

Free Radic Biol Med. 2022 May 9:S0891-5849(22)00180-0. doi: 10.1016/j.freeradbiomed.2022.05.005. Online ahead of print.ABSTRACTThe semi-essential amino acid, cysteine, plays important roles in both essential cellular processes as well as in modulation of signaling cascades. Cysteine is obtained both from the diet as well as generated endogenously via the transsulfuration pathway. Cysteine ... read more

FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.R2180.ABSTRACTAlmost all Huntington's Disease (HD) patients die within 10-30 years after symptom onset and currently there are no available treatments to slow, stop, or reverse its progression. HD is a neurodegenerative disease that causes a biphasic signaling pattern in the striatum in which ... read more

Huntington's disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion in the Huntingtin (HTT) gene. The resulting polyglutamine (polyQ) tract alters the function of the HTT protein. Although HTT is expressed in different tissues, the medium spiny projection neurons (MSNs) in the striatum are particularly vulnerable in ... read more

J Huntingtons Dis. 2022 May 2. doi: 10.3233/JHD-210506. Online ahead of print.ABSTRACTBACKGROUND: When developed properly, disease-specific patient reported outcome measures have the potential to measure relevant changes in how a patient feels and functions in the context of a therapeutic trial. The Huntington's Disease Health Index (HD-HI) is a multifaceted ... read more

Nat Rev Neurol. 2022 May 9. doi: 10.1038/s41582-022-00670-5. Online ahead of print.NO ABSTRACTPMID:35534552 | DOI:10.1038/s41582-022-00670-5 ... read more

Eur J Pharmacol. 2022 May 4:175001. doi: 10.1016/j.ejphar.2022.175001. Online ahead of print.ABSTRACTCells are fundamental units of life. To ensure the maintenance of homeostasis, integrity of structural and functional counterparts is needed to be essentially balanced. The cytoskeleton plays a vital role in regulating the cellular morphology, signalling and other factors ... read more

Neurochem Int. 2022 May 4:105357. doi: 10.1016/j.neuint.2022.105357. Online ahead of print.ABSTRACTPolyglutamine (PolyQ) diseases are a group of inherited neurodegenerative diseases including Huntington's disease and several types of spinocerebellar ataxias, which are caused by aggregation and accumulation of the disease-causative proteins with an abnormally expanded PolyQ stretch. Extracellular vesicles (EVs) are ... read more

Orphanet J Rare Dis. 2022 May 7;17(1):184. doi: 10.1186/s13023-022-02330-9.ABSTRACTBACKGROUND: People with Huntington's disease (HD) have increased functional and cognitive dependence. While numerous clinical, genetic, and therapeutic management studies have been carried out, few studies have investigated the disease from the personal experience and the context of people living with HD. ... read more

Spinocerebellar ataxia 2 (SCA2) is a neurodegenerative disorder caused by the expansion of the poly-glutamine (polyQ) tract of Ataxin-2 (ATXN2). Other polyQ-containing proteins such as ATXN7 and huntingtin are associated with the development of neurodegenerative diseases when their N-terminal polyQ domains are expanded. Furthermore, they undergo proteolytic processing events that ... read more

Front Aging Neurosci. 2022 Apr 19;14:797220. doi: 10.3389/fnagi.2022.797220. eCollection 2022.ABSTRACTHuntington's disease (HD) is an autosomal dominant genetic disorder caused by an expansion of the CAG repeat in the first exon of Huntingtin's gene. The associated neurodegeneration mainly affects the striatum and the cortex at early stages and progressively spreads to ... read more

Eur J Neurol. 2022 May 5. doi: 10.1111/ene.15385. Online ahead of print.ABSTRACTBACKGROUND: Huntington's disease (HD) is a rare neurodegenerative disease that presents with progressive psychological, cognitive and motor impairment. These diverse symptoms place a high burden on the patient, families and the healthcare systems they rely on. This study aimed ... read more

Mov Disord. 2022 May 5. doi: 10.1002/mds.29035. Online ahead of print.NO ABSTRACTPMID:35510647 | DOI:10.1002/mds.29035 ... read more

Brain Behav. 2022 May 5:e2592. doi: 10.1002/brb3.2592. Online ahead of print.ABSTRACTBACKGROUND: Spectral-domain optical coherence tomography (OCT) may detect retinal changes as a biomarker in neurodegenerative diseases like manifest Huntington's disease (HD). We investigate macular retinal layer thicknesses in a premanifest HD (pre-HD) cohort and healthy controls (HC).METHODS: Pre-HD mutation carriers ... read more

Methods Mol Biol. 2022;2429:73-84. doi: 10.1007/978-1-0716-1979-7_6.ABSTRACTProtein aggregation is one of the hallmarks of many neurodegenerative diseases. While protein aggregation is a heavily studied aspect of neurodegenerative disease, methods of detection vary from one model system to another. Induced pluripotent stem cells (iPSCs) present an opportunity to model disease using patient-specific ... read more

Autophagy. 2022 May 4:1-26. doi: 10.1080/15548627.2022.2063003. Online ahead of print.ABSTRACTMacroautophagy/autophagy is an essential process for cellular survival and is implicated in many diseases. A critical step in autophagy is the transport of the transcription factor TFEB from the cytosol into the nucleus, through the nuclear pore (NP) by KPNB1/importinβ1. In ... read more

Huntington's disease (HD) is a devastating neurodegenerative disorder caused by CAG trinucleotide repeat expansions encoding a polyglutamine (polyQ) tract in the Huntingtin (HTT) gene1. Although mutant HTT (mHTT) protein tends to aggregate, the exact causes of neurotoxicity in HD remain unclear2. Here we show that altered elongation kinetics on CAG ... read more

Huntington disease (HD) is caused by a CAG repeat expansion mutation in the gene encoding the huntingtin (Htt) protein, with mutant Htt protein subsequently forming aggregates within the brain. Mutant Htt is a current target for novel therapeutic strategies for HD, however, the lack of translation from preclinical research to ... read more

Huntington disease (HD) is a neurodegerative disorder caused by an inherited unstable HTT CAG repeat that expands further, thereby eliciting a disease process that may be initiated by polyglutamine-expanded huntingtin or a short polyglutamine-product. Phosphorylation of selected candidate residues is reported to mediate polyglutamine-fragment degradation and toxicity. Here to support ... read more

Mov Disord. 2022 May 2. doi: 10.1002/mds.29013. Online ahead of print.ABSTRACTA caregiver's all-too-familiar narrative - "He doesn't think through what he does, but mostly he does nothing." Apathy and impulsivity, debilitating and poorly understood, commonly co-occur in Huntington's disease (HD). HD is a neurodegenerative disease with manifestations bridging clinical neurology ... read more

Front Neurosci. 2022 Apr 15;16:859298. doi: 10.3389/fnins.2022.859298. eCollection 2022.ABSTRACTThe study of human movement and biomechanics forms an integral part of various clinical assessments and provides valuable information toward diagnosing neurodegenerative disorders where the motor symptoms predominate. Conventional gait and postural balance analysis techniques like force platforms, motion cameras, etc., are ... read more

Front Pharmacol. 2022 Apr 14;13:786475. doi: 10.3389/fphar.2022.786475. eCollection 2022.ABSTRACTNovel effective therapeutic strategies are needed to treat brain neurodegenerative diseases and to improve the quality of life of patients affected by Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), Amyotrophic Lateral sclerosis (ALS) as well as other brain conditions. At ... read more

Biochemistry (Mosc). 2022 Jan;87(1):21-34. doi: 10.1134/S0006297922010035.ABSTRACTSIRT3 is a protein lysine deacetylase with a prominent role in the maintenance of mitochondrial integrity, which is a vulnerable target in many diseases. Intriguingly, cellular aging is reversible just by SIRT3 overexpression, which raises many questions about the role of SIRT3 in the molecular ... read more

Rev Neurol (Paris). 2022 Apr 28:S0035-3787(22)00552-5. doi: 10.1016/j.neurol.2022.03.004. Online ahead of print.ABSTRACTHuntington's disease is a rare, severe, and inherited neurodegenerative disorder that affects young adults. To date, there is no treatment to stop its progression. The primary atrophy of the striatum in HD, is limited in space and centrally focalised ... read more

Cogn Behav Neurol. 2022 Apr 22. doi: 10.1097/WNN.0000000000000301. Online ahead of print.ABSTRACTBACKGROUND: Depression and suicidality are commonly experienced by Huntington disease (HD) gene carriers. Research on these behavioral symptoms is imperative, not only to increase our understanding of the symptoms and how they relate to HD, but also to contribute ... read more

BMJ Open. 2022 Apr 29;12(4):e058738. doi: 10.1136/bmjopen-2021-058738.ABSTRACTINTRODUCTION: Health services generate large amounts of routine health data (eg, administrative databases, disease registries and electronic health records), which have important secondary uses for research. Increases in the availability and the ability to access and analyse large amounts of data represent a major ... read more

Nat Rev Neurol. 2022 Apr 29. doi: 10.1038/s41582-022-00653-6. Online ahead of print.ABSTRACTThe genetic underpinnings and end-stage pathological hallmarks of neurodegenerative diseases are increasingly well defined, but the cellular pathophysiology of disease initiation and propagation remains poorly understood, especially in sporadic forms of these diseases. Altered nucleocytoplasmic transport is emerging as ... read more

Front Mol Biosci. 2022 Apr 11;9:830161. doi: 10.3389/fmolb.2022.830161. eCollection 2022.ABSTRACTExpansions of RNA AUUCU, CCUG, CAG, and CUG repeats cause spinocerebellar ataxia type 10, myotonic dystrophy type 2, Huntington's disease, and myotonic dystrophy type 1, respectively. By performing extensive molecular dynamic simulations, we investigated the bending propensities and conformational landscapes adopted ... read more

CNS Spectr. 2022 Apr;27(2):248. doi: 10.1017/S109285292200058X.ABSTRACTHuntington's disease is a rare autosomal dominant disease with an estimated incidence of approximately 4-6.1/100,000 people within the United States. Often recognized for its progressive motor symptoms and cognitive decline, its psychiatric symptoms can be underrepresented. It is only within the past few years that ... read more

Front Aging Neurosci. 2022 Apr 11;14:841711. doi: 10.3389/fnagi.2022.841711. eCollection 2022.ABSTRACTWith the development of the sequencing technique, more than 40 repeat expansion diseases (REDs) have been identified during the past two decades. Moreover, the clinical features of these diseases show some commonality, and the nervous system, especially the cognitive function was ... read more

Exp Physiol. 2022 Apr 27. doi: 10.1113/EP090327. Online ahead of print.ABSTRACTNEW FINDINGS: What is the central question of this study? We investigated the action of intrathecal administration of a novel toxin (CTK01512-2) in a mouse model for Huntington´s disease (HD). We asked if spinal cord neurons can represent a therapeutic ... read more

ACS Chem Biol. 2022 Apr 28. doi: 10.1021/acschembio.1c00949. Online ahead of print.ABSTRACTDisease intervention at the DNA level generally has been avoided because of off-target effects. Recent advances in genome editing technologies using CRISPR-Cas9 have opened a new era in DNA-targeted therapeutic approaches. However, delivery of such systems remains a major ... read more

RNA Biol. 2022 Jan;19(1):594-608. doi: 10.1080/15476286.2022.2066334.ABSTRACTRNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and short hairpin RNAs (shRNAs) that can be designed to selectively interact with drug targets currently undruggable with small molecule-based drugs or monoclonal antibodies. Furthermore, RNA-based therapeutics ... read more

Neuroepidemiology. 2022 Apr 28. doi: 10.1159/000524732. Online ahead of print.ABSTRACTINTRODUCTION: Huntington's disease (HD) is a rare, genetic, and ultimately fatal neurodegenerative disease, with a devastating impact on individuals and families across generations. Few estimates of HD epidemiology in the US exist.METHODS: This study employed a retrospective cross-sectional design to examine ... read more

Eur Neurol. 2022 Apr 28:1-6. doi: 10.1159/000524146. Online ahead of print.ABSTRACTHuntington's disease (HD) is a neurodegenerative, progressive disorder conditioned by a mutation in the HTT gene. Its progression is dependent on the causative mutation extension. Caregivers of individuals affected by HD, most often patients' relatives, are burdened with the care. ... read more

Biol Rev Camb Philos Soc. 2022 Apr 26. doi: 10.1111/brv.12860. Online ahead of print.ABSTRACTProtein kinase RNA-like ER kinase (PERK) is an endoplasmic reticulum (ER) stress sensor that responds to the accumulation of misfolded proteins. Once activated, PERK initiates signalling pathways that halt general protein production, increase the efficiency of ER ... read more

Obesity (Silver Spring). 2022 May;30(5):982-993. doi: 10.1002/oby.23400.ABSTRACTThe metabolic syndrome comprises a family of clinical and laboratory findings, including insulin resistance, hyperglycemia, hypertriglyceridemia, low high-density lipoprotein cholesterol levels, and hypertension, in addition to central obesity. The syndrome confers a high risk of cardiovascular mortality. Indeed, metabolic dysfunction has been shown to ... read more

Chem Rev. 2022 Apr 26. doi: 10.1021/acs.chemrev.1c00941. Online ahead of print.ABSTRACTAmyloids are protein aggregates bearing a highly ordered cross β structural motif, which may be functional but are mostly pathogenic. Their formation, deposition in tissues and consequent organ dysfunction is the central event in amyloidogenic diseases. Such protein aggregation may ... read more

Life Sci. 2022 Apr 23:120569. doi: 10.1016/j.lfs.2022.120569. Online ahead of print.ABSTRACTHuntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease characterized by involuntary bizarre movements, psychiatric symptoms, dementia, and early death. Several studies suggested neuroprotective activities of inosine; however its role in HD is yet to be elucidated. The current ... read more

Neurocase. 2022 Apr 24:1-6. doi: 10.1080/13554794.2022.2051562. Online ahead of print.ABSTRACTWe describe the management of post-traumatic stress disorder (PTSD) and obsessive-compulsive disorders (OCD), through Cognitive Behavioral Therapy (CBT) in a Huntington's disease (HD) patient.Even with a psychopharmacological treatment to manage PTSD and OCD, psychiatric disorders remained in the HD patient. We ... read more

BMJ Neurol Open. 2022 Apr 5;4(1):e000268. doi: 10.1136/bmjno-2022-000268. eCollection 2022.ABSTRACTOBJECTIVES: Insight is an important predictor of quality of life in Huntington's disease and other neurodegenerative conditions. However, estimating insight with traditional methods such as questionnaires is challenging and subjected to limitations. This cross-sectional study experimentally quantified metacognitive insight into cognitive ... read more

Curr Pharm Des. 2022 Apr 22. doi: 10.2174/1381612828666220422084159. Online ahead of print.ABSTRACTAcid-sensitive ion channels (ASICs) are cationic channels activated by extracellular protons and widely distributed in the nervous system of mammals. It belongs to the ENaC/DEG family and has four coding genes: ASIC1, ASIC2, ASIC3, and ASIC4, which encode eight ... read more

J Huntingtons Dis. 2022 Apr 18. doi: 10.3233/JHD-210516. Online ahead of print.ABSTRACTBACKGROUND: A positive predictive genetic test for Huntington's disease (HD) can be a life-changing event for both carriers and their partners, leading to lower wellbeing and increasing the risk for separation and divorce. The 'Hold me Tight' program (HmT), ... read more

Autophagy. 2022 Apr 25. doi: 10.1080/15548627.2022.2069438. Online ahead of print.ABSTRACTHuntington disease is an inherited, progressive, incurable neurodegenerative disorder that primarily affects cells in the brain. Although the genetic basis for this condition has been known for nearly 30 years, how this causes disease is still unresolved. Of late there has ... read more

J Huntingtons Dis. 2022 Apr 19. doi: 10.3233/JHD-210475. Online ahead of print.ABSTRACTBACKGROUND: Huntington's disease (HD) is an autosomal dominant, neurological disease caused by an expanded CAG repeat near the N-terminus of the huntingtin (HTT) gene. A leading theory concerning the etiology of HD is that both onset and progression are ... read more

J Huntingtons Dis. 2022 Apr 20. doi: 10.3233/JHD-220533. Online ahead of print.ABSTRACTHuntington's disease (HD) is a devastating neurodegenerative disorder that urgently needs disease-modifying therapeutics. To this end, collaboration to standardize clinical research practices in the field and drive progress in addressing drug development challenges is paramount. At a meeting in ... read more

Eur J Med Chem. 2022 Apr 14;237:114359. doi: 10.1016/j.ejmech.2022.114359. Online ahead of print.ABSTRACTN-Methyl-d-aspartate (NMDA) receptors containing one or two GluN2B subunits play a crucial role in a variety of neurodegenerative diseases, such as Alzheimer's and Huntington's disease. In order to increase selectivity for GluN2B NMDA receptors, the piperidine ring of ... read more

Striatal cell-type-specific vulnerability in Huntington's disease (HD) preferentially affects dopamine D2R-expressing projection neurons (SPNs), compatible with manifest motor symptomatology in HD. Transcriptional studies of striatal striosome-matrix compartmentalization in HD are, however, limited, despite pathologic evidence for striosome vulnerability aligning with early mood symptomatology. We used single-nucleus RNA-sequencing on striatal samples ... read more

Nutrients. 2022 Apr 10;14(8):1577. doi: 10.3390/nu14081577.ABSTRACTThe nutrition recommendation for most common neurological diseases is to follow national dietary guidelines. This is to mitigate malnutrition, reduce the risk of diet-related diseases, and to help manage some common symptoms, including constipation. Nutrition education programs can support people in adhering to guidelines; hence ... read more

J Food Biochem. 2022 Apr 22:e14155. doi: 10.1111/jfbc.14155. Online ahead of print.ABSTRACTNeurodegenerative diseases are caused by the progressive loss of function or structure of nerve cells in the central nervous system. The most common neurodegenerative diseases include Alzheimer's disease, Huntington's disease, motor neuron disease, and Parkinson's disease. Although the physical ... read more

Lab Invest. 2022 Apr 22. doi: 10.1038/s41374-022-00791-x. Online ahead of print.ABSTRACTOne of the critical definitions of neurodegenerative diseases is the formation of insoluble intracellular inclusion body. These inclusions are found in various neurodegenerative diseases such as Alzheimer's disease, amyotrophic lateral sclerosis (ALS), Huntington's disease, Parkinson's disease, and frontotemporal dementia (FTD). ... read more

Biomedicines. 2022 Apr 7;10(4):864. doi: 10.3390/biomedicines10040864.ABSTRACTMetabotropic glutamate receptors (mGluRs; members of class C G-protein-coupled receptors) have been shown to modulate excitatory neurotransmission, regulate presynaptic extracellular glutamate levels, and modulate postsynaptic ion channels on dendritic spines. mGluRs were found to activate myriad signalling pathways to regulate synapse formation, long-term potentiation, autophagy, ... read more

J Pers Med. 2022 Apr 6;12(4):589. doi: 10.3390/jpm12040589.ABSTRACTHuntington's Disease (HD) is a rare, neurodegenerative disorder characterized by chorea, cognitive decline, and behavioral changes. Despite wide clinical use since the mid-1980s, tiapride was recently withdrawn from the Dutch market without rationale. Although alternatives are available, many patients experienced dysregulation after this ... read more

Life (Basel). 2022 Apr 15;12(4):591. doi: 10.3390/life12040591.ABSTRACTQuercetin is one of the most common, naturally occurring flavonoids, structurally classified to the flavonol subfamily. This compound, found in many edible and medicinal plants either as a free or glycosidated form, has been scientifically exploited for many years, and one could hardly expect ... read more

J Clin Med. 2022 Apr 10;11(8):2110. doi: 10.3390/jcm11082110.ABSTRACTHuntington Disease (HD) is a degenerative neurological disease that causes a significant impact on the quality of life of the patient and eventually death. In this paper we present an approach to create a biomarker using as an input DNA CpG methylation data ... read more

Neurobiol Dis. 2022 Apr 20:105740. doi: 10.1016/j.nbd.2022.105740. Online ahead of print.ABSTRACTHuntington 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 ... read more

NPJ Regen Med. 2022 Apr 21;7(1):27. doi: 10.1038/s41536-022-00219-6.NO ABSTRACTPMID:35449161 | DOI:10.1038/s41536-022-00219-6 ... read more

Front Neurosci. 2022 Apr 5;16:853911. doi: 10.3389/fnins.2022.853911. eCollection 2022.ABSTRACTThe contribution of organelles to neural development has received increasing attention. Studies have shown that organelles such as mitochondria, endoplasmic reticulum (ER), lysosomes, and endosomes play important roles in neurogenesis. Specifically, metabolic switching, reactive oxygen species production, mitochondrial dynamics, mitophagy, mitochondria-mediated apoptosis, ... read more

J Nutr Health Aging. 2022;26(4):332-338. doi: 10.1007/s12603-022-1743-6.ABSTRACTOBJECTIVES: To explore the prevalence of dysphagia and fear of choking in patients with Huntington's disease (HD) as well as preventive measures, both those applied and those not included in managing dysphagia. Also, to investigate related problems encountered by their formal and informal caregivers.DESIGN: ... read more

Elife. 2022 Apr 22;11:e73075. doi: 10.7554/eLife.73075.ABSTRACTThe Hippo pathway, a highly conserved signaling cascade that functions as an integrator of molecular signals and biophysical states, ultimately impinges upon the transcription coactivator Yes-associated protein 1 (YAP). Hippo-YAP signaling has been shown to play key roles both at the early embryonic stages of ... read more

Food Chem Toxicol. 2022 Apr 19:113017. doi: 10.1016/j.fct.2022.113017. Online ahead of print.ABSTRACTKaempferol is a natural antioxidant present in vegetables and fruits used in human nutrition. In previous work, we showed that intraperitoneal (i.p.) kaempferol administration strongly protects against striatum neurodegeneration induced by i.p. injections of 3-nitropropionic acid (NPA), an animal ... read more

Front Cell Neurosci. 2022 Apr 4;16:837576. doi: 10.3389/fncel.2022.837576. eCollection 2022.ABSTRACTEmerging evidence suggests that DNA repair deficiency and genome instability may be the impending signs of many neurological diseases. Genome-wide association (GWAS) studies have established a strong correlation between genes that play a role in DNA damage repair and many neurodegenerative ... read more

Front Digit Health. 2022 Apr 4;4:874208. doi: 10.3389/fdgth.2022.874208. eCollection 2022.ABSTRACTThe Unified Huntington's Disease Rating Scale (UHDRS) is the primary clinical assessment tool for rating motor function in patients with Huntington's disease (HD). However, the UHDRS and similar rating scales (e.g., UPDRS) are both subjective and limited to in-office assessments that ... read more