30,603 results match your criteria Primary Lateral Sclerosis


A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. We describe clinical and neuropathological features in a cohort of nine individuals of Cree descent who, because of a founder effect, are homozygous for the same PRUNE1 mutation. They follow the course of a combined neuromuscular and neurodegenerative disease, rather than a pure failure of normal development. Read More

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http://dx.doi.org/10.1002/ajmg.a.60690DOI Listing
December 2018

Misdiagnosis: Hypoglossal palsy mimicking bulbar onset amyotrophic lateral sclerosis.

eNeurologicalSci 2019 Mar 22;14:6-8. Epub 2018 Nov 22.

Mayo Clinic Florida, Department of Neurology, USA.

Bulbar onset amyotrophic lateral sclerosis (bALS) is a currently incurable neurodegenerative condition characterized by insidious progression of bulbar muscle paresis; namely dyspnea, dysarthria, and dysphagia. The diagnosis of bALS requires exclusion of mimicking pathologies as the diagnosis of bALS may have significant implications on patients' quality of life, future planning, and familial/social dynamics. Herein we present two cases which were misdiagnosed as bALS when in fact a structural lesion of the hypoglossal nerve was causative. Read More

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http://dx.doi.org/10.1016/j.ensci.2018.11.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275204PMC

Phenotypic heterogeneity of astrocytes in motor neuron disease.

Clin Exp Neuroimmunol 2018 Nov 4;9(4):225-234. Epub 2018 Oct 4.

Department of Neuroscience and Pathobiology Research Institute of Environmental Medicine Nagoya University Nagoya Japan.

Accumulating evidence has shown that astrocytes do not just support the function of neurons, but play key roles in maintaining the brain environment in health and disease. Contrary to the traditional understanding of astrocytes as static cells, reactive astrocytes possess more diverse functions and phenotypes than previously predicted. In the present focused review, we summarize the evidence showing that astrocytes are playing profound roles in the disease process of amyotrophic lateral sclerosis. Read More

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http://dx.doi.org/10.1111/cen3.12476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282976PMC
November 2018

Evidence for treatment of spasticity in motor neuron disease.

Lancet Neurol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Amsterdam University Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30493-9DOI Listing
December 2018

Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

Lancet Neurol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

Background: Spasticity is a major determinant of disability and decline in quality of life in patients with motor neuron disease. Cannabinoids have been approved for symptomatic treatment of spasticity in multiple sclerosis. We investigated whether cannabinoids might also reduce spasticity in patients with motor neuron disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14744422183040
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http://dx.doi.org/10.1016/S1474-4422(18)30406-XDOI Listing
December 2018
1 Read

Muscle Ciliary Neurotrophic Factor Receptor α Contributes to Motor Neuron STAT3 Activation Following Peripheral Nerve Lesion.

Eur J Neurosci 2018 Dec 16. Epub 2018 Dec 16.

Department of Pharmacology and Systems Physiology, University of Cincinnati, Cincinnati, Ohio, USA.

Expression of the ciliary neurotrophic factor (CNTF) receptor essential ligand binding subunit, CNTF receptor α (CNTFRα), is induced in motor neurons and skeletal muscle following peripheral nerve lesion. We previously found muscle CNTFRα promotes motor neuron axon regeneration post-lesion. Both nerve lesion and CNTF administration activate motor neuron signal transducer and activator of transcription 3 (STAT3), a transcription factor implicated in axon growth, suggesting CNTF receptors may contribute to the lesion-induced STAT3 activation. Read More

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http://dx.doi.org/10.1111/ejn.14304DOI Listing
December 2018

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy.

Neuromuscul Disord 2018 Oct 30. Epub 2018 Oct 30.

Roche Innovation Center, Hoffmann-La Roche Ltd., Grenzacherstrasse 124, CH-4070 Basel, Switzerland.

Spinal muscular atrophy (SMA) is a rare genetic and progressively debilitating neuromuscular disease. It is the leading genetic cause of death among infants. In SMA, low levels of survival of motor neuron (SMN) protein lead to motor neuron death and muscle atrophy as the SMN protein is critical to motor neuron survival. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.10.001DOI Listing
October 2018

Distinction of sporadic and familial forms of ALS based on mitochondrial characteristics.

FASEB J 2018 Dec 14:fj201801843R. Epub 2018 Dec 14.

Laboratory of Bioenergetics and Biomembranes, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.

Bioenergetic failure, oxidative stress, and changes in mitochondrial morphology are common pathologic hallmarks of amyotrophic lateral sclerosis (ALS) in several cellular and animal models. Disturbed mitochondrial physiology has serious consequences for proper functioning of the cell, leading to the chronic mitochondrial stress. Mitochondria, being in the center of cellular metabolism, play a pivotal role in adaptation to stress conditions. Read More

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http://dx.doi.org/10.1096/fj.201801843RDOI Listing
December 2018

Using automated electronic medical record data extraction to model ALS survival and progression.

BMC Neurol 2018 Dec 14;18(1):205. Epub 2018 Dec 14.

Department of Neurology, University of Kansas Medical Center, Kansas City, USA.

Background: To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes.

Methods: We used an Informatics for Integrating Biology and the Bedside search discovery tool to identify and extract data from 354 ALS patients from the University of Kansas Medical Center EMR. The completeness and integrity of the data extraction were verified by manual chart review. Read More

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http://dx.doi.org/10.1186/s12883-018-1208-zDOI Listing
December 2018
1 Read

Axon-Seq Decodes the Motor Axon Transcriptome and Its Modulation in Response to ALS.

Stem Cell Reports 2018 Dec;11(6):1565-1578

Department of Neuroscience, Karolinska Institutet, Stockholm 171 77, Sweden. Electronic address:

Spinal motor axons traverse large distances to innervate target muscles, thus requiring local control of cellular events for proper functioning. To interrogate axon-specific processes we developed Axon-seq, a refined method incorporating microfluidics, RNA sequencing (RNA-seq), and bioinformatic quality control. We show that the axonal transcriptome is distinct from that of somas and contains fewer genes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183047
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http://dx.doi.org/10.1016/j.stemcr.2018.11.005DOI Listing
December 2018
2 Reads

Dopamine Cells Differentially Regulate Striatal Cholinergic Transmission across Regions through Corelease of Dopamine and Glutamate.

Cell Rep 2018 Dec;25(11):3148-3157.e3

Department of Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA. Electronic address:

The balance of dopamine and acetylcholine in the dorsal striatum is critical for motor and learning functions. Midbrain dopamine cells and local cholinergic interneurons (ChIs) densely innervate the striatum and have strong reciprocal actions on each other. Although dopamine inputs regulate ChIs, the functional consequences of dopamine neuron activity across dorsal striatal regions is poorly understood. Read More

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http://dx.doi.org/10.1016/j.celrep.2018.11.053DOI Listing
December 2018

Sexuality and intimacy in ALS: systematic literature review and future perspectives.

J Neurol Neurosurg Psychiatry 2018 Dec 11. Epub 2018 Dec 11.

Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy

Several features of amyotrophic lateral sclerosis (ALS) impact on sexuality and intimate relationship; however, the issue has received poor attention so far. We performed a systematic literature review in order to provide an up-to-date account of sexuality in ALS. References were identified by searches of PubMed, Web of Science, Scopus and PsycINFO (1970-2017, English literature). Read More

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http://dx.doi.org/10.1136/jnnp-2018-319684DOI Listing
December 2018

Safety, Tolerability, and Pharmacodynamics of Intrathecal Injection of Recombinant Human HGF (KP-100) in Subjects With Amyotrophic Lateral Sclerosis: A Phase I Trial.

J Clin Pharmacol 2018 Dec 11. Epub 2018 Dec 11.

Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.

Hepatocyte growth factor is an endogenous pleiotropic factor shown to act as a potent neuroprotectant against disease progression in animal models of amyotrophic lateral sclerosis, which is a devastating, adult-onset motor neuron disease. To evaluate the safety, tolerability, and pharmacokinetics of recombinant 5-residue-deleted human hepatocyte growth factor (KP-100) injected intrathecally through an implantable catheter connected to a subcutaneous port, we conducted a first-in-human phase I trial of intrathecal KP-100 in 15 Japanese patients with amyotrophic lateral sclerosis. The regimen was a single injection of 3 escalating doses (0. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jcph.1355
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http://dx.doi.org/10.1002/jcph.1355DOI Listing
December 2018
2 Reads

Epidemiological Survey of Neurological Diseases in a Tribal Population Cluster in Gujarat.

Ann Indian Acad Neurol 2018 Oct-Dec;21(4):294-299

Psychologist, Neurology Foundation, Mumbai, Maharashtra, India.

Background: There are few community-based neuroepidemiological studies based in tribal communities. This cross-sectional community-based study explored the prevalence rates of neurological disorders in the tribal region of Kaparada in Gujarat.

Methodology: A two-stage methodology was used. Read More

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http://dx.doi.org/10.4103/aian.AIAN_284_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238552PMC
December 2018

Amyotrophic lateral sclerosis as a synaptopathy.

Neural Regen Res 2019 Feb;14(2):189-192

Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN, USA; School of Biomedical Sciences, The University of Queensland, St. Lucia, Australia.

The synapse is an incredibly specialized structure that allows for the coordinated communication of information from one neuron to another. When assembled into circuits, steady streams of excitatory and inhibitory synaptic activity shape neural outputs. At the organismal level, ensembles of neural networks underlie behavior, emotion and memory. Read More

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http://dx.doi.org/10.4103/1673-5374.244782DOI Listing
February 2019

Pregnancy 5 Years After Onset of Amyotrophic Lateral Sclerosis Symptoms: A Case Report and Review of the Literature.

J Obstet Gynaecol Can 2018 Dec 7. Epub 2018 Dec 7.

Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON.

Background: Pregnancy in patients with amyotrophic lateral sclerosis (ALS) is extremely rare and often results in delivery of a healthy baby when patients are in the early stages of the disease.

Case: This report describes the case of a successful pregnancy 5 years after ALS onset. Significant worsening of weakness, unsteady balance, and dysphagia were noticed around the third trimester. Read More

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http://dx.doi.org/10.1016/j.jogc.2018.09.015DOI Listing
December 2018

Tryptophan 32 mediates SOD1 toxicity in a in vivo motor neuron model of ALS and is a promising target for small molecule therapeutics.

Neurobiol Dis 2018 Dec 4;124:297-310. Epub 2018 Dec 4.

Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada; Centre for Prions and Protein Folding Diseases, University of Alberta, Edmonton, AB T6G 2M8, Canada; Department of Medical Genetics, University of Alberta, Edmonton T6G 2H7, Canada. Electronic address:

SOD1 misfolding, toxic gain of function, and spread are proposed as a pathological basis of amyotrophic lateral sclerosis (ALS), but the nature of SOD1 toxicity has been difficult to elucidate. Uniquely in SOD1 proteins from humans and other primates, and rarely in other species, a tryptophan residue at position 32 (W32) is predicted to be solvent exposed and to participate in SOD1 misfolding. We hypothesized that W32 is influential in SOD1 acquiring toxicity, as it is known to be important in template-directed misfolding. Read More

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http://dx.doi.org/10.1016/j.nbd.2018.11.025DOI Listing
December 2018

Muscle specific kinase (MuSK) activation preserves neuromuscular junctions in the diaphragm but is not sufficient to provide a functional benefit in the SOD1 mouse model of ALS.

Neurobiol Dis 2018 Dec 4. Epub 2018 Dec 4.

Departments of Neuroscience, Genentech, South San Francisco, CA, USA. Electronic address:

Amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting motor neurons, is characterized by rapid decline of motor function and ultimately respiratory failure. As motor neuron death occurs late in the disease, therapeutics that prevent the initial disassembly of the neuromuscular junction may offer optimal functional benefit and delay disease progression. To test this hypothesis, we treated the SOD1 mouse model of ALS with an agonist antibody to muscle specific kinase (MuSK), a receptor tyrosine kinase required for the formation and maintenance of the neuromuscular junction. Read More

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http://dx.doi.org/10.1016/j.nbd.2018.12.002DOI Listing
December 2018
5.078 Impact Factor

Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration.

Neuron 2018 Dec;100(5):1241-1251.e7

Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland; Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland; University of Basel, Basel, Switzerland. Electronic address:

Large numbers of brain regions are active during behaviors. A high-resolution, brain-wide activity map could identify brain regions involved in specific behaviors. We have developed functional ultrasound imaging to record whole-brain activity in behaving mice at a resolution of ∼100 μm. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08966273183104
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http://dx.doi.org/10.1016/j.neuron.2018.11.031DOI Listing
December 2018
6 Reads

Effects of cannabinoids in Amyotrophic Lateral Sclerosis (ALS) murine models: A systematic review and meta-analysis.

J Neurochem 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurology, Gold Coast Hospital and Health Service, QLD, Australia.

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder that results from motor neuron damage. Cannabinoids have been proposed as treatments for ALS due to their anti-excitotoxicity, anti-oxidant, and anti-inflammatory effects. Pre-clinical studies in mice models of ALS have been published using a range of cannabinoid formulations and doses. Read More

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http://dx.doi.org/10.1111/jnc.14639DOI Listing
December 2018
1 Read

Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs.

Pharmacol Res Perspect 2018 12 29;6(6):e00447. Epub 2018 Nov 29.

Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.

Spinal muscular atrophy (SMA) is a rare, inherited neuromuscular disease caused by deletion and/or mutation of the Survival of Motor Neuron 1 ( gene. A second gene, , produces low levels of functional SMN protein that are insufficient to fully compensate for the lack of . Risdiplam (RG7916; RO7034067) is an orally administered, small-molecule pre-mRNA splicing modifier that distributes into the central nervous system (CNS) and peripheral tissues. Read More

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http://doi.wiley.com/10.1002/prp2.447
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http://dx.doi.org/10.1002/prp2.447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262736PMC
December 2018
5 Reads

A human-derived antibody targets misfolded SOD1 and ameliorates motor symptoms in mouse models of amyotrophic lateral sclerosis.

Sci Transl Med 2018 Dec;10(470)

Neurimmune AG, 8952 Schlieren, Switzerland.

Mutations in the gene encoding superoxide dismutase 1 (SOD1) lead to misfolding and aggregation of SOD1 and cause familial amyotrophic lateral sclerosis (FALS). However, the implications of wild-type SOD1 misfolding in sporadic forms of ALS (SALS) remain unclear. By screening human memory B cells from a large cohort of healthy elderly subjects, we generated a recombinant human monoclonal antibody (α-miSOD1) that selectively bound to misfolded SOD1, but not to physiological SOD1 dimers. Read More

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http://stm.sciencemag.org/lookup/doi/10.1126/scitranslmed.aa
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http://dx.doi.org/10.1126/scitranslmed.aah3924DOI Listing
December 2018
4 Reads

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA).

Brain Sci 2018 Dec 4;8(12). Epub 2018 Dec 4.

School of Medicine, Keele University, Staffordshire ST5 5BG, UK.

Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) remains a persistent challenge. Interest is growing in the potential molecular similarities between these two diseases, with the hope of better understanding disease pathology for the guidance of therapeutic development. The aim of this study was to conduct a comparative analysis of published proteomic studies of ALS and SMA, seeking commonly dysregulated molecules to be prioritized as future therapeutic targets. Read More

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http://www.mdpi.com/2076-3425/8/12/212
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http://dx.doi.org/10.3390/brainsci8120212DOI Listing
December 2018
5 Reads

Association of Cerebrospinal Fluid Neurofilament Light Protein Levels With Cognition in Patients With Dementia, Motor Neuron Disease, and Movement Disorders.

JAMA Neurol 2018 Dec 3. Epub 2018 Dec 3.

Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.

Importance: Neuronal and axonal destruction are hallmarks of neurodegenerative diseases, but it is difficult to estimate the extent and progress of the damage in the disease process.

Objective: To investigate cerebrospinal fluid (CSF) levels of neurofilament light (NFL) protein, a marker of neuroaxonal degeneration, in control participants and patients with dementia, motor neuron disease, and parkinsonian disorders (determined by clinical criteria and autopsy), and determine its association with longitudinal cognitive decline.

Design, Setting, And Participants: In this case-control study, we investigated NFL levels in CSF obtained from controls and patients with several neurodegenerative diseases. Read More

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http://dx.doi.org/10.1001/jamaneurol.2018.3746DOI Listing
December 2018
1 Read

Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation.

Med Sci Monit 2018 Dec 3;24:8750-8757. Epub 2018 Dec 3.

Department of Neuromuscular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland).

BACKGROUND Juvenile amyotrophic lateral sclerosis (JALS) is a rare form of motor neuron disease and occurs before 25 years of age. Only a few cases of juvenile-onset ALS have been reported. MATERIAL AND METHODS To study genetic and clinicopathological features in Chinese patients with juvenile ALS, we retrospectively reviewed ALS patients in our hospital and screened out 2 patients with disease onset before the age of 25. Read More

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http://dx.doi.org/10.12659/MSM.913724DOI Listing
December 2018

The applause sign in frontotemporal lobar degeneration and related conditions.

J Neurol 2018 Dec 1. Epub 2018 Dec 1.

Neurologische Klinik und Poliklinik, Ludwig Maximilians Universität München, Munich, Germany.

The applause sign, i.e., the inability to execute the same amount of claps as performed by the examiner, was originally reported as a sign specific for progressive supranuclear palsy (PSP). Read More

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http://dx.doi.org/10.1007/s00415-018-9134-yDOI Listing
December 2018
2 Reads
3.377 Impact Factor

Celiac disease presenting as motor neuron disease.

Neurol India 2018 Nov-Dec;66(6):1810-1812

Department of Neurology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

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http://dx.doi.org/10.4103/0028-3886.246268DOI Listing
December 2018
2 Reads

TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

Eur J Med Genet 2018 Nov 30. Epub 2018 Nov 30.

Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

Distal hereditary motor neuropathies (dHMNs) comprise a group of clinically and genetically heterogeneous inherited lower motor neuron syndromes mainly characterized by a distal-predominant pattern of progressive muscle atrophy, weakness and hyporeflexia, without sensory dysfunction. Although at least 21 causative genes for dHMN have been reported, mutational scanning of these genes often fails to identify the causative variants in dHMN cohorts, suggesting that additional causative genes remain to be identified. We studied a four-generation pedigree of a Japanese family with autosomal dominant dHMN to provide insight into the pathogenetic basis of the disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183033
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http://dx.doi.org/10.1016/j.ejmg.2018.11.028DOI Listing
November 2018
2 Reads

Neuroimmune and Inflammatory Signals in Complex Disorders of the Central Nervous System.

Neuroimmunomodulation 2018 Dec 5:1-25. Epub 2018 Dec 5.

Neuroscience Program, Federal Fluminense University, Niterói, Brazil.

An extensive microglial-astrocyte-monocyte-neuronal cross talk seems to be crucial for normal brain function, development, and recovery. However, under certain conditions neuroinflammatory interactions between brain cells and neuroimmune cells influence disease outcome and brain pathology. Microglial cells express a range of functional states with dynamically pleomorphic profiles from a surveilling status of synaptic transmission to an active player in major events of development such as synaptic elimination, regeneration, and repair. Read More

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http://dx.doi.org/10.1159/000494761DOI Listing
December 2018
5 Reads

Fungal Neurotoxins and Sporadic Amyotrophic Lateral Sclerosis.

Neurotox Res 2018 Dec 5. Epub 2018 Dec 5.

Neuroinflammation Group, Department of Biological Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.

We review several lines of evidence that point to a potential fungal origin of sporadic amyotrophic lateral sclerosis (ALS). ALS is the most common form of motor neuron disease (MND) in adults. It is a progressive and fatal disease. Read More

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http://dx.doi.org/10.1007/s12640-018-9980-5DOI Listing
December 2018
1 Read

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

J Neurol 2018 Dec 4. Epub 2018 Dec 4.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decline. We performed mutational screening in 80 patients with sporadic or autosomal recessive adult-onset ataxia. Read More

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http://link.springer.com/10.1007/s00415-018-9141-z
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http://dx.doi.org/10.1007/s00415-018-9141-zDOI Listing
December 2018
3 Reads

Taste changes in amyotrophic lateral sclerosis and effects on quality of life.

Neurol Sci 2018 Dec 4. Epub 2018 Dec 4.

Neuromuscular Omnicentre (NEMO)-Fondazione Serena Onlus, Piazza Ospedale Maggiore, 3, 20162, Milan, Italy.

The primary aim of the study is to evaluate possible taste changes in a cohort of amyotrophic lateral sclerosis patients (pALS) with dysphagia, focusing on eventual psychological and quality of life (QoL) implications. The second aim is to evaluate the changes of QoL following the use of a specific device that provides food flavour. Thirty-two ALS patients were recruited and divided into two groups: subjects feeding only through enteral tube (ET) and subjects still eating by oral way (OW). Read More

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http://link.springer.com/10.1007/s10072-018-3672-z
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http://dx.doi.org/10.1007/s10072-018-3672-zDOI Listing
December 2018
3 Reads

Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy.

Neuropathology 2018 Dec 3. Epub 2018 Dec 3.

Department of Neurology, Mifukai Vihara Hananosato Hospital, Hiroshima, Japan.

Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated trans-activation response DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected at autopsy. Read More

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http://dx.doi.org/10.1111/neup.12523DOI Listing
December 2018
1 Read

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology.

Acta Neuropathol 2018 Dec 3. Epub 2018 Dec 3.

Department of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.

TAR DNA-binding protein 43 (TDP-43) aggregation is the most common pathological hallmark in frontotemporal dementia (FTD) and characterizes nearly all patients with motor neuron disease (MND). The earliest stages of TDP-43 pathobiology are not well-characterized, and whether neurodegeneration results from TDP-43 loss-of-function or aggregation remains unclear. In the behavioral variant of FTD (bvFTD), patients undergo selective dropout of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterior cingulate cortices. Read More

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http://dx.doi.org/10.1007/s00401-018-1942-8DOI Listing
December 2018
2 Reads

The neurophysiology of deforming spastic paresis: A revised taxonomy.

Ann Phys Rehabil Med 2018 Nov 28. Epub 2018 Nov 28.

Service de rééducation neurolocomotrice, EA 7377 BIOTN, laboratoire analyse et restauration du mouvement, université Paris-Est Créteil, hôpitaux universitaires Henri-Mondor, Assistance publique-Hôpitaux de Paris, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.

This paper revisits the taxonomy of the neurophysiological consequences of a persistent impairment of motor command execution in the classic environment of sensorimotor restriction and muscle hypo-mobilization in short position. Around each joint, the syndrome involves 2 disorders, muscular and neurologic. The muscular disorder is promoted by muscle hypo-mobilization in short position in the context of paresis, in the hours and days after paresis onset: this genetically mediated, evolving myopathy, is called spastic myopathy. Read More

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http://dx.doi.org/10.1016/j.rehab.2018.10.004DOI Listing
November 2018
1 Read

Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016.

JAMA Pediatr 2018 Nov 30. Epub 2018 Nov 30.

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.

Importance: Acute flaccid myelitis (AFM) is an emerging poliolike illness of children whose clinical spectrum and associated pathogens are only partially described. The case definition is intentionally encompassing for epidemiologic surveillance to capture all potential AFM cases. Defining a restrictive, homogenous subpopulation may aid our understanding of this emerging disease. Read More

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http://dx.doi.org/10.1001/jamapediatrics.2018.4890DOI Listing
November 2018
2 Reads

Protective Effects of Myxobacterial Extracts on Hydrogen Peroxide-induced Toxicity on Human Primary Astrocytes.

Neuroscience 2018 Nov 26. Epub 2018 Nov 26.

NeuroinflammationGroup, Faculty of Medicine and Health Sciences, Macquarie University, NSW, Australia. Electronic address:

Astrocytes, the main non-neuronal cells in the brain, have significant roles in the maintenance and survival of neurons. Oxidative stress has been implicated in various neurodegenerative disorders such as Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Myxobacteria produce a wide range of bioactive metabolites with notable structures and modes of action, which introduce them as potent natural product producers. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183077
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http://dx.doi.org/10.1016/j.neuroscience.2018.11.033DOI Listing
November 2018
4 Reads

Measurement of spinal cord atrophy using phase sensitive inversion recovery (PSIR) imaging in motor neuron disease.

PLoS One 2018 29;13(11):e0208255. Epub 2018 Nov 29.

Department of Neurology, University of California San Francisco, San Francisco, California, United States of America.

Background: The spectrum of motor neuron disease (MND) includes numerous phenotypes with various life expectancies. The degree of upper and lower motor neuron involvement can impact prognosis. Phase sensitive inversion recovery (PSIR) imaging has been shown to detect in vivo gray matter (GM) and white matter (WM) atrophy in the spinal cord of other patient populations but has not been explored in MND. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208255PLOS
November 2018
3 Reads

Efficacy and safety of edaravone in treatment of amyotrophic lateral sclerosis-a systematic review and meta-analysis.

Neurol Sci 2018 Nov 27. Epub 2018 Nov 27.

Department of Neurology, Affiliated Xiaolan Hospital, Southern Medical University, Zhongshan, China.

Background: Based on the results of randomized, double-blind, placebo-controlled trials, the benefit and safety of edaravone in the treatment of amyotrophic lateral sclerosis remain controversial. We performed a meta-analysis to evaluate the efficacy and safety of edaravone in the treatment of this disease.

Methods: We searched PubMed, the Cochrane Library, and Embase from the inception of electronic data to April 2018. Read More

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http://dx.doi.org/10.1007/s10072-018-3653-2DOI Listing
November 2018
1 Read

Falls in frontotemporal dementia and related syndromes.

Handb Clin Neurol 2018 ;159:195-203

Brain and Mind Centre, University of Sydney Medical School, Sydney, NSW, Australia.

Frontotemporal dementia (FTD) and related diseases are important causes of younger-onset dementia. Falls may be a source of morbidity and mortality in FTD, but remain underreported, and very few high-quality studies have been performed. In this chapter, we briefly review the clinical features of FTD and related syndromes such as motor neuron disease (MND) and atypical parkinsonian syndromes, such as progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). Read More

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http://dx.doi.org/10.1016/B978-0-444-63916-5.00012-4DOI Listing
January 2018

Reduced sirtuin 1/adenosine monophosphate-activated protein kinase in amyotrophic lateral sclerosis patient-derived mesenchymal stem cells can be restored by resveratrol.

J Tissue Eng Regen Med 2018 Nov 26. Epub 2018 Nov 26.

Department of Biology, College of Natural Science, Chosun University, Gwangju, Korea.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neuron system. Our previous study has shown that bone marrow-mesenchymal stem cells (BM-MSCs) from ALS patients have functional limitations in releasing neurotrophic factors and exhibit the senescence phenotype. In this study, we examined sirtuin 1/adenosine monophosphate-activated protein kinase (SIRT1/AMPK) activities and identified significant decreases in the ALS-MSCs compared with normal healthy control originated BM-MSCs. Read More

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http://doi.wiley.com/10.1002/term.2776
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http://dx.doi.org/10.1002/term.2776DOI Listing
November 2018
6 Reads

Establishment and 12-month progress of the New Zealand Motor Neurone Disease Registry.

J Clin Neurosci 2018 Nov 22. Epub 2018 Nov 22.

Department of Neurology, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand; Centre for Brain Research, Neurogenetics Research Clinic, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland 1023, New Zealand.

There are only limited treatments currently available for Motor Neurone Disease, each with modest benefits. However, there is a large amount of research and drug discovery currently underway worldwide. The New Zealand Motor Neurone Disease Registry was established in 2017 to facilitate participation in research and clinical trials, and to aid researchers in planning and recruitment. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183174
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http://dx.doi.org/10.1016/j.jocn.2018.11.034DOI Listing
November 2018
1 Read

Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 Nov 22;1864(2):191-211. Epub 2018 Nov 22.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea SA2 8PP, UK. Electronic address:

Cytochrome P450 (CYP) 27A1 is a key enzyme in both the acidic and neutral pathways of bile acid biosynthesis accepting cholesterol and ring-hydroxylated sterols as substrates introducing a (25R)26-hydroxy and ultimately a (25R)26-acid group to the sterol side-chain. In human, mutations in the CYP27A1 gene are the cause of the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols. Read More

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http://dx.doi.org/10.1016/j.bbalip.2018.11.006DOI Listing
November 2018
3 Reads

Motor neuron degeneration, severe myopathy and TDP-43 increase in a transgenic pig model of SOD1-linked familiar ALS.

Neurobiol Dis 2018 Nov 22;124:263-275. Epub 2018 Nov 22.

Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, Via Bologna 148, 10154 Turin, TO, Italy. Electronic address:

Amyotrophic Lateral Sclerosis (ALS) is a neural disorder gradually leading to paralysis of the whole body. Alterations in superoxide dismutase SOD1 gene have been linked with several variants of familial ALS. Here, we investigated a transgenic (Tg) cloned swine model expressing the human pathological hSOD1 allele. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09699961183075
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http://dx.doi.org/10.1016/j.nbd.2018.11.021DOI Listing
November 2018
4 Reads

Quantum Capacitance Based Amplified Graphene Phononics for Studying Neurodegenerative Diseases.

ACS Appl Mater Interfaces 2018 Nov 23. Epub 2018 Nov 23.

Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease, characterized by a rapid loss of upper and lower motor-neurons resulting in patient death from respiratory failure within 3-5 years of initial symptoms onset. Although at least 30 genes of major effect have been reported, the pathobiology of ALS is not well understood. Compounding this is the lack of a reliable laboratory test which can accurately diagnose this rapidly deteriorating disease. Read More

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http://pubs.acs.org/doi/10.1021/acsami.8b15893
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http://dx.doi.org/10.1021/acsami.8b15893DOI Listing
November 2018
5 Reads

Analysis of clinical and electrophysiological characteristics of 150 patients with amyotrophic lateral sclerosis in China.

Neurol Sci 2018 Nov 23. Epub 2018 Nov 23.

Department of Neurology, Qilu Hospital of Shandong University (Qingdao), No. 758, Hefei Road, Shibei District, Qingdao, 266035, Shandong, China.

Objective: To explore the relationship between the clinical onset locations and the electrophysiological characteristics of different spinal segments in amyotrophic lateral sclerosis (ALS) patients. To develop a rapid examination method using electromyographs (EMGs) for the diagnosis of ALS.

Methods: The clinical symptoms and electrodiagnostic examination results of 150 patients with definite or probable ALS were retrospectively analyzed. Read More

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http://dx.doi.org/10.1007/s10072-018-3633-6DOI Listing
November 2018
1 Read

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

J Neurol Neurosurg Psychiatry 2018 Nov 22. Epub 2018 Nov 22.

Department of Neuroinflammation, UCL Institute of Neurology, London, UK.

Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. Patients with white matter abnormalities detected on MRI often present a diagnostic challenge to both general and specialist neurologists. Patients typically present with a progressive syndrome including various combinations of cognitive impairment, movement disorders, ataxia and upper motor neuron signs. Read More

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http://dx.doi.org/10.1136/jnnp-2018-319481DOI Listing
November 2018
12 Reads