- Current and Possible Future Therapeutic Options for Huntington's DiseaseJ 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
- Recent Synergy of Nanodiamonds: Role in Brain-Targeted Drug Delivery for the Management of Neurological DisordersMol 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
- In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception with prenatal diagnosis for Huntington disease: a cost-effectiveness analysisFertil 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
- Healthcare resource utilization and costs in individuals with Huntington's disease by disease stage in a US populationJ 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
- The neostriatum in polyglutamine diseases: preferential decreases in large neurons in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease and in small neurons in Huntington diseaseNeuropathology. 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
- CRISPR-Based Genome-Editing Tools for Huntington's Disease Research and TherapyNeurosci 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
- Spectroscopic, Electrochemical, and Biological Assays of Copper-Binding Molecules for Screening of Different Drugs and Plant Extracts against Neurodegenerative DisordersACS 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
- A Kinematic Data-Driven Approach to Differentiate Involuntary Choreic Movements in Individuals with Neurological ConditionsIEEE 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
- Behavioral features in child and adolescent huntingtin gene-mutation carriersBrain 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
- When does Huntington disease begin?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
- Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat DiseasesFront 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
- Dual phase <sup>18</sup>F-FP CIT PET and <sup>99m</sup>Tc- ECD SPECT findings of Huntington's diseaseRadiol 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
- Sensitivity of discrete symmetry metrics: Implications for metric choicePLoS 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
- A brief and efficient stimulus set to create the inverted U-shaped relationship between rhythmic complexity and the sensation of groovePLoS 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
- Postural control and gait measures derived from wearable inertial measurement unit devices in Huntington's disease: Recommendations for clinical outcomesClin 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
- Calcium carbonate supplementation causes motor dysfunctionExp 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
- Can We Treat Neurodegenerative Proteinopathies by Enhancing Protein Degradation?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
- Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patientsParkinsonism 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
- Intermediate alleles of HTT: A new pathway in longevityJ 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
- Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse modelWe 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
- Mutant huntingtin exon-1 impaired GTPCH and DHFR expression in plants and micePathophysiology 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
- Huntington's disease clinical trials corner: April 2022J 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
- Searching for Answers: Information-Seeking by Young People At-Risk for Huntington's DiseaseJ 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
- Nursing Approaches and Perceived Quality of Life in Advanced Stage Huntington's Disease PatientsJ 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
- The Lived Experiences of Depression in Huntington's Disease: A Qualitative StudyJ 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
- A molecular view of amyotrophic lateral sclerosis through the lens of interaction network modulesPLoS 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
- Dimethyl fumarate: A review of preclinical efficacy in models of neurodegenerative diseasesEur 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
- Glatiramer Acetate Immunomodulation: Evidence of Neuroprotection and Cognitive PreservationCells. 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
- MicroRNA Alteration, Application as Biomarkers, and Therapeutic Approaches in Neurodegenerative DiseasesInt 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
- RhoA Signaling in Neurodegenerative DiseasesCells. 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
- Fighting the Huntington's Disease with a G-Quadruplex-Forming Aptamer Specifically Binding to Mutant Huntingtin Protein: Biophysical Characterization, In Vitro and In Vivo StudiesInt 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
- Predicting clinical scores in Huntington's disease: a lightweight speech testJ 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
- Impairments of social cognition significantly predict the progression of functional decline in Huntington's disease: A 6-year follow-up studyAppl 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
- Discovery of Balanced and Novel G Protein Biased Agonists for the Orphan Receptor GPR52FASEB 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
- Structural Elements of 'Anti-prion J protein 1' (Apj1) Required for Efficient Curing of the [PSI+] Prion by Hsp104 OverexpressionFASEB 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
- A Yeast Model System to Study the Human Orthologs of the Ribosome-Associated ComplexFASEB 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
- Understanding the role of RTL8 proteins in Ubiquilin-2 biologyFASEB 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
- Novel pathways of intracellular membrane lipid transport and neurodegenerative diseasesFASEB 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
- Cysteine metabolism and hydrogen sulfide signaling in Huntington's diseaseFree 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
- Hyperactive Striatal Dopamine Signaling Observed in Huntington's Disease Mouse Models Prior to Motor Symptom Onset Can be Attenuated via Activation of M<sub>4</sub> ReceptorsFASEB 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
- Proteomic Analysis of Huntington's Disease Medium Spiny Neurons Identifies Alterations in Lipid DropletsHuntington'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
- The Huntington's Disease Health Index: Initial Evaluation of a Disease-Specific Patient Reported Outcome MeasureJ 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
- FAN1 nuclease helps to delay Huntington diseaseNat 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
- Cytoskeleton saga: Its regulation in normal physiology and modulation in neurodegenerative disordersEur 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
- Emerging roles of extracellular vesicles in polyglutamine diseases: Mutant protein transmission, therapeutic potential, and diagnosticsNeurochem 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
- Beyond the clinical context: the process of losing oneself living with Huntington's diseaseOrphanet 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
- ATXN2 is a target of N-terminal proteolysisSpinocerebellar 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
- Altered Cholesterol Homeostasis in Huntington's DiseaseFront 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
- Natural History and Burden of Huntington's Disease in the UK: A Population-Based Cohort StudyEur 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
- CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like PhenotypeMov Disord. 2022 May 5. doi: 10.1002/mds.29035. Online ahead of print.NO ABSTRACTPMID:35510647 | DOI:10.1002/mds.29035 ... read more
- No optical coherence tomography changes in premanifest Huntington's disease mutation carriers far from disease onsetBrain 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
- Detection of Soluble and Insoluble Protein Species in Patient-Derived iPSCsMethods 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
- Nucleoporin POM121 signals TFEB-mediated autophagy via activation of SIGMAR1/sigma-1 receptor chaperone by pridopidineAutophagy. 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
- Ribotoxic collisions on CAG expansions disrupt proteostasis and stress responses in Huntington's DiseaseHuntington'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
- N-terminal mutant Huntingtin deposition correlates with CAG repeat length and disease onset, but not neuronal loss in Huntington's diseaseHuntington 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
- Huntingtin turnover: Modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550Huntington 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
- Disordered Decision Making: A Cognitive Framework for Apathy and Impulsivity in Huntington's DiseaseMov 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
- Recent Trends and Practices Toward Assessment and Rehabilitation of Neurodegenerative Disorders: Insights From Human GaitFront 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
- Exploiting Focused Ultrasound to Aid Intranasal Drug Delivery for Brain TherapyFront 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
- Focus on Molecular Functions of Anti-Aging Deacetylase SIRT3Biochemistry (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
- What did we learn from neural grafts in Huntington disease?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
- Clinical Correlates of Depression and Suicidality in Huntington Disease: An Analysis of the Enroll-HD Observational StudyCogn 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
- Design and methodological characteristics of studies using observational routinely collected health data for investigating the link between cancer and neurodegenerative diseases: protocol for a meta-research studyBMJ 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
- Nuclear pore complexes – a doorway to neural injury in neurodegenerationNat 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
- Computational Investigation of Bending Properties of RNA AUUCU, CCUG, CAG, and CUG Repeat Expansions Associated With Neuromuscular DisordersFront 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
- Psychiatric Manifestations of Huntington's Disease Case ReportCNS 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
- Cognitive Dysfunction in Repeat Expansion Diseases: A ReviewFront 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
- Neuroprotective effect of CTK 01512-2 recombinant toxin at the spinal cord in a model of Huntington's diseaseExp 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
- A Selective Alkylating Agent for CTG Repeats in Myotonic Dystrophy Type 1ACS 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
- Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseasesRNA 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
- Epidemiology of Huntington's Disease in the United States Medicare and Medicaid PopulationsNeuroepidemiology. 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
- Huntington's Disease Progression and Caregiver BurdenEur 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
- The PERKs of mitochondria protection during stress: insights for PERK modulation in neurodegenerative and metabolic diseasesBiol 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
- Early metabolic impairment as a contributor to neurodegenerative disease: Mechanisms and potential pharmacological interventionObesity (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
- Second Sphere Interactions in Amyloidogenic DiseasesChem 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
- Inosine attenuates 3-nitropropionic acid-induced Huntington's disease-like symptoms in rats via the activation of the A2AR/BDNF/TrKB/ERK/CREB signaling pathwayLife 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
- Benefit of cognitive behavioral therapy for post-traumatic stress disorder and obsessive-compulsive disorders in Huntington's disease: a case reportNeurocase. 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
- Metacognitive insight into cognitive performance in Huntington's disease gene carriersBMJ 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
- Recent Advances in Acid-sensitive Ion Channels in Central Nervous System DiseasesCurr 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
- The Hold me Tight Program for Couples Facing Huntington's DiseaseJ 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
- Hunting Out the autophagic problem in Huntington diseaseAutophagy. 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
- Standardizing the CAP Score in Huntington's Disease by Predicting Age-at-OnsetJ 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
- Huntington's Disease Regulatory Science Consortium: Accelerating Medical Product DevelopmentJ 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
- Synthesis and biological evaluation of conformationally restricted GluN2B ligands derived from eliprodilEur 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
- Huntington's Disease Produces Multiplexed Transcriptional Vulnerabilities of StriatalD1-D2 and Striosome-Matrix NeuronsStriatal 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
- Nutrition Education Programs for Adults with Neurological Diseases Are Lacking: A Scoping ReviewNutrients. 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
- Genistein: A focus on several neurodegenerative diseasesJ 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
- How can we interpret the relationship between liquid-liquid phase separation and amyotrophic lateral sclerosis?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
- Group I mGluRs in Therapy and Diagnosis of Parkinson's Disease: Focus on mGluR5 SubtypeBiomedicines. 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
- The Many Faces of Huntington's Chorea Treatment: The Impact of Sudden Withdrawal of Tiapride after 40 Years of Use and a Systematic ReviewJ 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
- A Flavonoid on the Brain: Quercetin as a Potential Therapeutic Agent in Central Nervous System DisordersLife (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
- Neural Network Aided Detection of Huntington DiseaseJ 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
- Altered cortical processing of sensory input in Huntington disease mouse modelsNeurobiol 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
- Author Correction : SUPT4H1-edited stem cell therapy rescues neuronal dysfunction in a mouse model for Huntington's diseaseNPJ 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
- Mitochondria and Other Organelles in Neural Development and Their Potential as Therapeutic Targets in Neurodegenerative DiseasesFront 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
- Dysphagia, Fear of Choking and Preventive Measures in Patients with Huntington's Disease: The Perspectives of Patients and Caregivers in Long-Term CareJ 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
- Role of YAP in early ectodermal specification and a Huntington's Disease model of human neurulationElife. 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
- Kaempferol prevents the activation of complement C3 protein and the generation of reactive A1 astrocytes that mediate rat brain degeneration induced by 3-nitropropionic acidFood 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
- Polyglutamine Expansion in Huntingtin and Mechanism of DNA Damage Repair Defects in Huntington's DiseaseFront 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
- Predicting Severity of Huntington's Disease With Wearable SensorsFront 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
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