378,667 results match your criteria neurodegenerative disorders


Gait phenotype in Batten disease: A marker of disease progression.

Eur J Paediatr Neurol 2021 Sep 14;35:1-7. Epub 2021 Sep 14.

Centre for Rare Diseases, Department of Children & Youth, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark. Electronic address:

Background: Gait impairment and its etiologic correlate has not previously been subject of special attention in Batten disease.

Methods: In the present review, the clinical picture of gait phenotype during Batten disease course accompanied by descriptions of the known concomitant patho-anatomical changes is presented.

Results: In CLN1 a non-rhythmic gait is seen around 1-1½ years of age. Read More

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September 2021

Risk factors for hyperthermia mortality among emergency department patients.

Ann Epidemiol 2021 Sep 18. Epub 2021 Sep 18.

Department of Public Health; School of Social Sciences, Humanities, and Arts; University of California, Merced; Merced CA 95343, USA.

Purpose: This study examines risk factors for heat-related mortality due to hyperthermia in emergency department patients, a vulnerable population.

Methods: This matched case-control study used statewide, longitudinally linked emergency department (ED) data and death records from California. Cases comprised California residents (≥18 years) who presented to a state-licensed ED and died of hyperthermia during the study period (2009-2012). Read More

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September 2021

Characterizing the role of the dark kinome in neurodegenerative disease - A mini review.

Authors:
Alison D Axtman

Biochim Biophys Acta Gen Subj 2021 Sep 18:130014. Epub 2021 Sep 18.

UNC Eshelman School of Pharmacy, Division of Chemical Biology and Medicinal Chemistry, Structural Genomics Consortium, Chapel Hill, NC, USA. Electronic address:

Background: Drugs that modulate previously unexplored targets could potentially slow or halt the progression of neurodegenerative diseases. Several candidate proteins lie within the dark kinome, those human kinases that have not been well characterized. Much of the kinome (~80%) remains poorly studied, and these targets likely harbor untapped biological potential. Read More

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September 2021

Disrupting CISD2 function in cancer cells primarily impacts mitochondrial labile iron levels and triggers TXNIP expression.

Free Radic Biol Med 2021 Sep 18. Epub 2021 Sep 18.

Department of Surgery, University of Missouri School of Medicine, Christopher S. Bond Life Sciences Center University of Missouri, 1201 Rollins St, Columbia, MO, 65201, USA; The Division of Plant Sciences and Interdisciplinary Plant Group, College of Agriculture, Food and Natural Resources, Christopher S. Bond Life Sciences Center University of Missouri, 1201 Rollins St, Columbia, MO, 65201, USA. Electronic address:

The CISD2 (NAF-1) protein plays a key role in regulating cellular homeostasis, aging, cancer and neurodegenerative diseases. It was found to control different calcium, reactive oxygen species (ROS), and iron signaling mechanisms. However, since most studies of CISD2 to date were conducted with cells that constitutively lack, overexpress, or contain mutations in CISD2, the relationships between these different signaling processes are unclear. Read More

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September 2021

Epigenetic treatment of behavioral and physiological deficits in a tauopathy mouse model.

Aging Cell 2021 Sep 21:e13456. Epub 2021 Sep 21.

Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, USA.

Epigenetic abnormality is implicated in neurodegenerative diseases associated with cognitive deficits, such as Alzheimer's disease (AD). A common feature of AD is the accumulation of neurofibrillary tangles composed of hyperphosphorylated tau. Transgenic mice expressing mutant P301S human tau protein develop AD-like progressive tau pathology and cognitive impairment. Read More

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September 2021

Cerebrospinal fluid levels of L-glutamate signal central inflammatory neurodegeneration in multiple sclerosis.

J Neurochem 2021 Sep 21. Epub 2021 Sep 21.

Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", Caserta, Italy.

Excessive extracellular concentrations of L-glutamate (L-Glu) can be neurotoxic and contribute to neurodegenerative processes in multiple sclerosis (MS). The association between cerebrospinal fluid (CSF) L-Glu levels, clinical features, and inflammatory biomarkers in patients with MS remains unclear. In 179 MS patients (relapsing remitting, RR, n = 157; secondary progressive/primary progressive, SP/PP, n = 22), CSF levels of L-Glu at diagnosis were determined and compared with those obtained in a group of 40 patients with non-inflammatory/non-degenerative disorders. Read More

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September 2021

Age at Diabetes Onset and Subsequent Risk of Dementia-Reply.

JAMA 2021 Sep;326(9):871-872

Epidemiology of Ageing and Neurodegenerative Diseases, Université de Paris, Paris, France.

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September 2021

25 years of ERβ: a personal journey.

J Mol Endocrinol 2021 Sep 1. Epub 2021 Sep 1.

J Gustafsson, Biology and Biochemistry, Center for NRs and cell signaling, Houston, 77002-1014, United States.

After the discovery of ERβ, a novel role for DHT in estrogen signaling was revealed. Instead of just being a better androgen, DHT was found to be a precursor of the ERβ agonist 5α-androstane-3β, 17β-diol (3βAdiol), the second estrogen in the body which did not require aromatase for its synthesis. ERβ was found to oppose androgen signaling and thus a potential target for treatment of prostate cancer. Read More

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September 2021

Activation of Autophagy Ameliorates Age-Related Neurogenesis Decline and Neurodysfunction in Adult Mice.

Stem Cell Rev Rep 2021 Sep 21. Epub 2021 Sep 21.

Department of Anatomy, Shanxi Medical University, 030001, Taiyuan, People's Republic of China.

Adult neurogenesis is the ongoing generation of functional new neurons from neural progenitor cells (NPCs) in the mammalian brain. However, this process declines with aging, which is implicated in the recession of brain function and neurodegeneration. Understanding the mechanism of adult neurogenesis and stimulating neurogenesis will benefit the mitigation of neurodegenerative diseases. Read More

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September 2021

Implication of folate deficiency in CYP2U1 loss of function.

J Exp Med 2021 Nov 21;218(11). Epub 2021 Sep 21.

Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Pierre Bénite, France.

Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders. Understanding of their pathogenic mechanisms remains sparse, and therapeutic options are lacking. We characterized a mouse model lacking the Cyp2u1 gene, loss of which is known to be involved in a complex form of these diseases in humans. Read More

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November 2021

Encephalitis patient-derived monoclonal GABAA receptor antibodies cause epileptic seizures.

J Exp Med 2021 Nov 21;218(11). Epub 2021 Sep 21.

German Center for Neurodegenerative Diseases (DZNE) Berlin, Berlin, Germany.

Autoantibodies targeting the GABAA receptor (GABAAR) hallmark an autoimmune encephalitis presenting with frequent seizures and psychomotor abnormalities. Their pathogenic role is still not well-defined, given the common overlap with further autoantibodies and the lack of patient-derived mAbs. Five GABAAR mAbs from cerebrospinal fluid cells bound to various epitopes involving the α1 and γ2 receptor subunits, with variable binding strength and partial competition. Read More

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November 2021

Gadolinium Tissue Distribution in a Large-Animal Model after a Single Dose of Gadolinium-based Contrast Agents.

Radiology 2021 Sep 21:210553. Epub 2021 Sep 21.

From the Diagnostic Imaging Research Unit, Clinic for Diagnostic Imaging, Department of Clinical Diagnostics and Services (H.R.), Clinic for Zoo Animals, Exotic Pets and Wildlife (L.F.M.), and Musculoskeletal Research Unit, Department of Molecular Mechanisms of Disease (A.K.), Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 258c, 8057 Zurich, Switzerland; Clinic for Neuroradiology, University Hospital Bonn, Bonn, Germany (H.R., A.R.); Institute of Inorganic and Analytical Chemistry, University of Münster, Münster, Germany (P.B., C.D., S.F., M.S., U.K.); Clinical Neuroimaging, German Center for Neurodegenerative Diseases, Bonn, Germany (A.R.); and Institute of Neuropathology, University Hospital Münster, Münster, Germany (A.X., A.J.).

Background There is an ongoing scientific debate about the degree and clinical importance of gadolinium deposition in the brain and other organs after administration of gadolinium-based contrast agents (GBCAs). While most published data focus on gadolinium deposition in the brain, other organs are rarely investigated. Purpose To compare gadolinium tissue concentrations in various organs 10 weeks after one injection (comparable to a clinically applied dose) of linear and macrocyclic GBCAs in a large-animal model. Read More

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September 2021

Balanced Solvent Model for Intrinsically Disordered and Ordered Proteins.

J Chem Inf Model 2021 Sep 21. Epub 2021 Sep 21.

State Key Laboratory of Microbial metabolism, Joint International Research Laboratory of Metabolic & Developmental Sciences, Department of Bioinformatics and Biostatistics, National Experimental Teaching Center for Life Sciences and Biotechnology, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, China.

Intrinsically disordered proteins (IDPs) have no fixed three-dimensional (3D) structures under physiological conditions, with the content being about 51% in human proteomics. IDPs are associated with many human diseases, such as cancer, diabetes, and neurodegenerative diseases. Because IDPs do not crystallize and have diverse conformers, traditional experimental methods such as crystallization and NMR can hardly capture their conformation ensemble and just provide average structural characters of IDPs. Read More

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September 2021

Can the kisspeptin help us in the understanding of pathology of some neurodegenerative brain diseases?

Folia Morphol (Warsz) 2021 Sep 21. Epub 2021 Sep 21.

Department of Normal and Clinical Anatomy, Faculty of Medicine and Dentistry, Pomeranian Medical University in Szczecin, Powstańców wielkopolskich 72, Szczecin, Poland.

It is already known that the discovery of kisspeptin was a revolutionary step in the understanding of regulation of neuroendocrine in reproduction. Kisspeptin is one of the main moderators of the gonadotropic axis, but the kisspeptin gene is known to be expressed in various regions of the central nervous system. The activity of kisspeptin is not limited to hypothalamic pituitary gonadal (HPG) axis; it participates in the regulation of multiple neuronal circuits in the limbic system. Read More

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September 2021

Multimodal electrophysiological analyses reveal that reduced synaptic excitatory neurotransmission underlies seizures in a model of NMDAR antibody-mediated encephalitis.

Commun Biol 2021 Sep 20;4(1):1106. Epub 2021 Sep 20.

Institute of Health and Neurodevelopment, College of Health and Life Sciences, Aston University, Birmingham, UK.

Seizures are a prominent feature in N-Methyl-D-Aspartate receptor antibody (NMDAR antibody) encephalitis, a distinct neuro-immunological disorder in which specific human autoantibodies bind and crosslink the surface of NMDAR proteins thereby causing internalization and a state of NMDAR hypofunction. To further understand ictogenesis in this disorder, and to test a potential treatment compound, we developed an NMDAR antibody mediated rat seizure model that displays spontaneous epileptiform activity in vivo and in vitro. Using a combination of electrophysiological and dynamic causal modelling techniques we show that, contrary to expectation, reduction of synaptic excitatory, but not inhibitory, neurotransmission underlies the ictal events through alterations in the dynamical behaviour of microcircuits in brain tissue. Read More

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September 2021

Non-invasive diagnostic tool for Parkinson's disease by sebum RNA profile with machine learning.

Sci Rep 2021 Sep 20;11(1):18550. Epub 2021 Sep 20.

Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.

Parkinson's disease (PD) is a progressive neurodegenerative disease presenting with motor and non-motor symptoms, including skin disorders (seborrheic dermatitis, bullous pemphigoid, and rosacea), skin pathological changes (decreased nerve endings and alpha-synuclein deposition), and metabolic changes of sebum. Recently, a transcriptome method using RNA in skin surface lipids (SSL-RNAs) which can be obtained non-invasively with an oil-blotting film was reported as a novel analytic method of sebum. Here we report transcriptome analyses using SSL-RNAs and the potential of these expression profiles with machine learning as diagnostic biomarkers for PD in double cohorts (PD [n = 15, 50], controls [n = 15, 50]). Read More

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September 2021

7,8-dihydroxyflavone ameliorates motor deficits via regulating autophagy in MPTP-induced mouse model of Parkinson's disease.

Cell Death Discov 2021 Sep 20;7(1):254. Epub 2021 Sep 20.

Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.

Parkinson's disease (PD) is a neurodegenerative disease characterized by the loss of dopaminergic neurons in the substantia nigra and diminished dopamine content in the striatum. Recent reports show that 7,8-dihydroxyflavone (DHF), a TrkB agonist, attenuates the α-synuclein deposition and ameliorates motor deficits. However, the underlying mechanism is unclear. Read More

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September 2021

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

J Med Genet 2021 Sep 20. Epub 2021 Sep 20.

Department of Neurology, Neurological Diseases and Brain Function Laboratory, The Affiliated Hospital of Southwest Medical University, Luzhou, China.

Background: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. Read More

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September 2021

Enrichment of rare variants in E3 ubiquitin ligase genes in Early onset Parkinson's disease.

Neurobiol Aging 2021 Aug 25. Epub 2021 Aug 25.

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare disease Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address:

Altered ubiquitin signaling and disrupted protein quality control have been implicated in the pathogenesis of PD. The aim of the study was to systematically examine the overlaps between E3 ubiquitin ligase genes and early onset PD (EOPD). A total of 695 EOPD patients were analyzed aggregate burden for rare variants (MAF <0. Read More

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Interactions between caveolin 1 polymorphism and the Mediterranean and Mediterranean-DASH Intervention for Neurodegenerative Delay diet (MIND) diet on metabolic dyslipidemia in overweight and obese adult women: a cross-sectional study.

BMC Res Notes 2021 Sep 20;14(1):364. Epub 2021 Sep 20.

Department of Community Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences (TUMS), P.O. Box: 14155-6117, Tehran, Iran.

Objective: The increased prevalence of metabolic dyslipidemia (MD) and its association with a variety of disorders raised a lot of attention to its management. Caveolin 1 (CAV1) the key protein in the caval structure of plasma membranes is many cell types that play an important role in its function. (CAV1) is a known gene associated with obesity. Read More

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September 2021

A clinical perspective of soluble epoxide hydrolase inhibitors in metabolic and related cardiovascular diseases.

Curr Mol Pharmacol 2021 Sep 19. Epub 2021 Sep 19.

Department of Pharmacy, Banasthali Vidyapith. Banasthali-304022, Rajasthan. India.

Epoxide hydrolase (EH) is a crucial enzyme responsible for catabolism, detoxification, and regulation of signaling molecules in various organisms including human beings. In mammals, EHs are classified according to their DNA sequence, sub-cellular location, and activity into eight major classes: soluble EH (sEH), microsomal EH (mEH), leukotriene A4 hydrolase (LTA4H), cholesterol EH (ChEH), hepoxilin EH, paternally expressed gene 1 (peg1/MEST), EH3 and EH4. The sEH, an α/β-hydrolase fold family enzyme is an emerging pharmacological target in multiple diseases namely, cardiovascular disease, neurodegenerative disease, chronic pain, fibrosis, diabetes, pulmonary diseases, and immunological disease. Read More

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September 2021

Peptide based therapy for neurological disorders.

Curr Protein Pept Sci 2021 Sep 20. Epub 2021 Sep 20.

Jaypee Institute of Information Technology, Department of Biotechnology, JIIT Noida, Sector 62, Noida-201309, UP. India.

Peptides are small molecules composed of amino acids linked together by peptide bonds. The targeted action of these peptides along with their magnificent ability to reach locations in body that are complicated to access, is being considered of tremendous potential in disease modifying therapies. Synthetic as well as natural peptides like Carnosine are currently under research for treatment of neurodegenerative disorders (NDDs). Read More

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September 2021

Quantification of NADH:ubiquinone oxidoreductase (complex I) content in biological samples.

J Biol Chem 2021 Sep 17:101204. Epub 2021 Sep 17.

Department of Pediatrics, Division of Neonatology, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

Impairments in mitochondrial energy metabolism have been implicated in human genetic diseases associated with mitochondrial and nuclear DNA mutations, neurodegenerative and cardiovascular disorders, diabetes, and aging. Alteration in mitochondrial complex I structure and activity has been shown to play a key role in Parkinson's disease and ischemia/reperfusion tissue injury, but significant difficulty remains in assessing the content of this enzyme complex in a given sample. The present study introduces a new method utilizing native polyacrylamide gel electrophoresis in combination with flavin fluorescence scanning to measure the absolute content of complex I, as well as α-ketoglutarate dehydrogenase complex (KGDHC), in any preparation. Read More

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September 2021

Reply to: "α-Synuclein (SNCA) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism".

Mov Disord 2021 Sep;36(9):2212-2213

Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen and German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.

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September 2021

Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Mov Disord 2021 Sep 20. Epub 2021 Sep 20.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

Background: The leucine-rich repeat kinase 2 (LRRK2) gene harbors both rare highly damaging missense variants (eg, p.G2019S) and common noncoding variants (eg, rs76904798) with lower effect sizes that are associated with Parkinson's disease (PD) risk.

Objectives: This study aimed to investigate in a large meta-analysis whether the LRRK2 Genome-Wide Association Study (GWAS) signal represented by rs76904798 is independently associated with PD risk from LRRK2 coding variation and whether complex linkage disequilibrium structures with p. Read More

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September 2021

LCZ696 Possesses a Protective Effect Against Homocysteine (Hcy)-Induced Impairment of Blood-Brain Barrier (BBB) Integrity by Increasing Occludin, Mediated by the Inhibition of Egr-1.

Neurotox Res 2021 Sep 20. Epub 2021 Sep 20.

Department of Cardiology, Ganzhou People's Hospital, Ganzhou, 341000, Jiangxi, China.

Homocysteine (Hcy) is a non-essential amino acid produced from methionine. It has been reported that high concentrations of Hcy are related to the pathogenesis of neurodegenerative diseases and induce the disruption of the blood-brain barrier (BBB) by triggering oxidative stress and inflammation. LCZ696 is a novel antihypertensive agent that has been recently reported to possess promising anti-inflammatory properties. Read More

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September 2021

A Pilot Study on the Repetitive Transcranial Magnetic Stimulation of Aβ and Tau Levels in Rhesus Monkey Cerebrospinal Fluid.

J Vis Exp 2021 Sep 3(175). Epub 2021 Sep 3.

Laboratory of Nonhuman Primate Disease Modeling Research, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University; Sichuan Kangcheng Biotech Co., Inc.;

Previous studies have demonstrated that a non-invasive light-flickering regime and auditory tone stimulation could affect Aβ and tau metabolism in the brain. As a non-invasive technique, repetitive transcranial magnetic stimulation (rTMS) has been applied for the treatment of neurodegenerative disorders. This study explored the effects of rTMS on Aβ and tau levels in rhesus monkey cerebrospinal fluid (CSF). Read More

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September 2021

SMA-miRs: miR-181a-5p, -324-5p, -451a are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.

Elife 2021 Sep 20;10. Epub 2021 Sep 20.

Department of Life Sciences and Public Health, Section of Genomic Medicine, Università cattolica del Sacro Cuore, Roma, Italy.

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor-neuron. The phenotype ranges from very severe to very mild forms. All patients have the homozygous loss of the gene and a variable number of (generally two-to-four copies), inversely related with the severity. Read More

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September 2021