Axonal dystrophy in the brain of mice with Sanfilippo syndrome.

Axonal dystrophy in the brain of mice with Sanfilippo syndrome. Exp Neurol. 2017 Jun 07;: Authors: Beard H, Hassiotis S, Gai WP, Parkinson-Lawrence E, Hopwood JJ, Hemsley KM Abstract Axonal dystrophy has been described as an early pathological feature of neurodegenerative disorders including Alzheimer's disease and amyotrophic lateral sclerosis. Axonal inclusions have also been reported to occur in several neurodegenerative lysosomal storage disorders including Mucopolysaccharidosis type IIIA (MPS IIIA; Sanfilippo syndrome). This disorder results from a mutation in the gene encoding the lysosomal sulphatase sulphamidase, and as a consequence heparan sulphate accumulates, accompanied by secondarily-stored gangliosides. The precise basis of symptom generation in MPS IIIA has not been elucidated, however axonal dystrophy may conceivably lead to impaired vesicular trafficking, neuronal dysfunction and/or death. We have utilised a faithful murine model of MPS IIIA to determine the spatio-temporal profile of neuronal inclusion formation and determine the effect of restoring normal lysosomal function. Dopaminergic (tyrosine hydroxylase-positive), cholinergic (choline acetyltransferase-positive) and GABAergic (glutamic acid decarboxylase65/67-positive) neurons were found to exhibit axonal dystrophy in MPS IIIA mouse brain. Axonal lesions present by ~seven weeks of age were Rab5-positive but lysosomal integral membrane protein-2 negative, suggesting early endosom...
Source: Experimental Neurology - Category: Neurology Authors: Tags: Exp Neurol Source Type: research

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Publication date: Available online 16 October 2019Source: Journal of Photochemistry and Photobiology B: BiologyAuthor(s): Jinwei Xue, Tongtong Liu, Yongdan Liu, Ye Jiang, Vidya Devanatha Desikan Seshadri, Surapaneni Krishna Mohan, Li LingAbstractParkinson disease is one of the most common neurological movement disorders affecting geriatric population. Biosynthesized gold nanoparticles are the ideal alternatives spotlighted by many researchers to treat various diseases. In the present study we synthesized gold nanoparticles using the root extract of Paeonia mountan, woody trees which are used in traditional Chinese medicine...
Source: Journal of Photochemistry and Photobiology B: Biology - Category: Speech-Language Pathology Source Type: research
This study was designed to investigate the supraspinal control of the recurrent inhibition during anisometric contractions of the plantar flexor muscles. Methods To that purpose, the paired Hoffmann-reflex (H-reflex) technique permitted to assess changes in homonymous recurrent pathway by comparing the modulations of test and conditioning H-reflexes (H′ and H1, respectively) in the soleus (SOL) muscle during maximal and submaximal isometric, concentric and eccentric contractions. Submaximal contraction intensity was set at 50% of the SOL electromyographic activity recorded during maximal isometric contraction. Fou...
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
CONCLUSION: AD causes impairment of EnA and ExA. Faster reactions by AD participants to the target on the left in VT+s and more accurate reactions to the target on the left in VT-s are in agreement with reports in the literature on the lateralization of visual-spatial attention (VSA) in the right hemisphere. In this study, also in agreement with previous reports, lateralization in AD was noted in favour of the stimuli on the left in ExA. PMID: 31613976 [PubMed - in process]
Source: Turkish Journal of Psychiatry - Category: Psychiatry Authors: Tags: Turk Psikiyatri Derg Source Type: research
This toolkit will support systems to understand the priorities in care for people living with various progressive neurological conditions including multiple sclerosis (MS), motor neurone disease (MND), Parkinson's and the atypical Parkinsonism's of multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and coticobasal degeneration (CBD). It provides the opportunity to assess and benchmark current systems to find opportunities for improvement.
Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
DISCUSSION: Aβ misfolding in blood plasma was a strong, specific risk prediction marker for clinical AD even many years before diagnosis in a community-based setting. PMID: 31611055 [PubMed - as supplied by publisher]
Source: The Journal of Alzheimers Association - Category: Psychiatry Tags: Alzheimers Dement Source Type: research
Conclusions: In this family, the same pathogenic variant in PRPH2 gene showed a wide range of clinical features of extensive chorioretinal macular atrophy with flecks as fundus falvimaculatus to CACD and macular pattern dystrophy in the heterozygous inheritance pattern and early onset/LCA like retinal dystrophy in the patient who was homozygous for the causative variant. PMID: 31618092 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Authors: Lee G, Cummings J, Decourt B, Leverenz JB, Sabbagh MN Abstract Introduction: Dementia with Lewy bodies (DLB) is an under-researched area despite being the second most common type of degenerative dementia after Alzheimer's disease. It is an area of unmet need with no approved symptomatic or disease-modifying therapies. The pharmacological management of DLB is complex and challenging because early trials of drugs for DLB have resulted in no demonstrable efficacy. Randomized controlled trials (RCTs) in the DLB population have only recently been initiated. Understanding results from previous and current clinic...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
This study was carried out in accordance with the recommendations of the National Animal Care and Use Committee of the University of Buenos Aires (CICUAL). The protocol was approved by the CICUAL. Mice were kept under a 12-h light/dark cycle, with controlled temperature (23 ± 2°C) and humidity (40–60%) and had ad libitum access to food and water. To produce hTDP-43 transgenic lines, as described previously (Igaz et al., 2011), pronucleus of fertilized eggs from C57BL/6J × C3HeJ F1 matings were injected with a vector containing hTDP-43-WT cDNA. Monogenic tetO-TDP-WT12 mice wer...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Abstract The evolutionarily conserved FOXO family of transcription factors has emerged as a significant arbiter of neural cell fate and function in mammals. From the neural stem cell (NSC) state through mature neurons under both physiological and pathological conditions, they have been found to modulate neural cell survival, stress responses, lineage commitment, and neuronal signaling. Lineage-specific FOXO knockout mice have provided an invaluable tool for the dissection of FOXO biology in the nervous system. Within the NSC compartments of the brain, FOXOs are required for the maintenance of NSC quiescence and fo...
Source: Current Topics in Developmental Biology - Category: Biology Authors: Tags: Curr Top Dev Biol Source Type: research
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