31,292 results match your criteria Primary Lateral Sclerosis


Assessing Inspiratory Muscle Strength for Early Detection of Respiratory Failure in Motor Neuron Disease: Should We Use MIP, SNIP, or Both?

Respiration 2019 Apr 24:1-11. Epub 2019 Apr 24.

Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, Geneva, Switzerland.

Background: Motor neuron disease (MND) invariably impacts on inspiratory muscle strength leading to respiratory failure. Regular assessment of sniff nasal inspiratory pressure (SNIP) and/or maximal mouth inspiratory pressure (MIP) contributes to early detection of a requirement for ventilatory support.

Objectives: The aim of this study was to compare the feasibility, agreement, and performance of both tests in MND. Read More

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http://dx.doi.org/10.1159/000498972DOI Listing

A context-based ABC model for literature-based discovery.

PLoS One 2019 24;14(4):e0215313. Epub 2019 Apr 24.

Department of Library and Information Science, Yonsei University, Seoul, Korea.

Background: In the literature-based discovery, considerable research has been done based on the ABC model developed by Swanson. ABC model hypothesizes that there is a meaningful relation between entity A extracted from document set 1 and entity C extracted from document set 2 through B entities that appear commonly in both document sets. The results of ABC model are relations among entity A, B, and C, which is referred as paths. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215313PLOS
April 2019
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The multiple faces of pain in motor neuron disease: a qualitative study to inform pain assessment and pain management.

Disabil Rehabil 2019 Apr 24:1-10. Epub 2019 Apr 24.

a Department of Neuroscience , Uppsala University , Uppsala , Sweden.

Purpose: The aim was to explore personal experiences of pain in people with motor neuron disease.

Materials And Methods: Sixteen participants were individually interviewed on one occasion concerning their experiences of presentation, consequences, and management of pain. Qualitative content analysis with researcher triangulation was used to synthesize and interpret data. Read More

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http://dx.doi.org/10.1080/09638288.2018.1555615DOI Listing

C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis.

J Neurol Sci 2019 Apr 17;401:51-54. Epub 2019 Apr 17.

Neurology research group, Department of Medicine, University of Cape Town, Cape Town, South Africa; Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

The hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic variant found in individuals with sporadic amyotrophic lateral sclerosis (ALS), occurring at a frequency of between 7 and 11% in cohorts of European ancestry. While limited data suggest that C9-expansions (>30 repeats) are less frequent in African-Americans with ALS, there is no data on the frequency of C9-expansions among ALS subjects residing in Africa. We therefore investigated the frequency of this expansion mutation (using repeat-primed PCR) in a cohort of 143 South Africans (SA) with ALS. Read More

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http://dx.doi.org/10.1016/j.jns.2019.04.026DOI Listing

Deterministic-tractography-based approach for diagnosis and disease monitoring of amyotrophic lateral sclerosis.

Clin Neurol Neurosurg 2019 Apr 15;181:73-75. Epub 2019 Apr 15.

Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Objectives: Upper and lower motor neuron signs are required for the diagnosis of amyotrophic lateral sclerosis. The detection of upper motor neuron signs is key for the diagnosis, as quite a few patients with amyotrophic lateral sclerosis lack upper motor neuron signs during the course of disease. This study sought to investigate whether deterministic tractography of the corticospinal tract, reflecting upper motor neuron signs, could be a surrogate biomarker for amyotrophic lateral sclerosis. Read More

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http://dx.doi.org/10.1016/j.clineuro.2019.04.015DOI Listing

Functional microglia neurotransmitters in amyotrophic lateral sclerosis.

Semin Cell Dev Biol 2019 Apr 19. Epub 2019 Apr 19.

Fondazione Santa Lucia IRCCS, Preclinical Neuroscience, Via Del Fosso di Fiorano 64, 00143, Rome, Italy. Electronic address:

Today neuroscience is dominated by the perspective that microglia are essential elements in any integrated view of the nervous system. A number of different neuroinflammatory conditions affect the CNS where microglia involvement, and particularly microgliosis, is not only a prominent feature, but also a pathogenic key mechanism of disease. On the other side, microglia can also constitute an important trigger of neuronal protection during neurodegenerative disorders. Read More

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http://dx.doi.org/10.1016/j.semcdb.2019.04.014DOI Listing
April 2019
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Variation in assistive technology use in Motor Neuron Disease according to clinical phenotypes and ALS Functional Rating Scale - Revised Score: A prospective observational study.

NeuroRehabilitation 2019 ;44(2):303-313

Physiotherapy Department, Monash University, Melbourne, Australia.

Background: Assistive devices enhance independence and quality of life for people living with motor neuron disease (MND), but prescription can be challenging.

Objective: Improved prescription of assistive devices, through improved understanding of the relationship between clinical phenotypes, Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R) functional domain sub-scores and assistive technology required by people living with MND.

Methods: Prospective, observational consecutive-sample study of 269 patients with MND diagnosis. Read More

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http://dx.doi.org/10.3233/NRE-182511DOI Listing
January 2019

Episodic memory and learning rates in amyotrophic lateral sclerosis without dementia.

Cortex 2019 Mar 19;117:257-265. Epub 2019 Mar 19.

Neurodegenerative Disease Unit, Department of Clinical Research in Neurology, University of Bari "Aldo Moro", Lecce, Italy; Neurodegenerative Disease Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari "Aldo Moro", Bari, Italy. Electronic address:

In amyotrophic lateral sclerosis (ALS), memory deficits may be primary or secondary to executive dysfunction. We assessed episodic memory and executive function of nondemented ALS patients, comparing episodic memory profiles and learning rates of ALS patients with those of mild cognitive impairment (MCI) subjects and cognitively healthy controls (HC). In a multidisciplinary tertiary centre for motor neuron disease, 72 nondemented ALS patients, 57 amnestic MCI (aMCI), 89 single non amnestic MCI with compromised executive functions (dysexecutive MCI), and 190 HC were enrolled. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00109452193010
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http://dx.doi.org/10.1016/j.cortex.2019.03.003DOI Listing
March 2019
1 Read

Biomarkers in Motor Neuron Disease: A State of the Art Review.

Front Neurol 2019 3;10:291. Epub 2019 Apr 3.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom.

Motor neuron disease can be viewed as an umbrella term describing a heterogeneous group of conditions, all of which are relentlessly progressive and ultimately fatal. The average life expectancy is 2 years, but with a broad range of months to decades. Biomarker research deepens disease understanding through exploration of pathophysiological mechanisms which, in turn, highlights targets for novel therapies. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2019.00291
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http://dx.doi.org/10.3389/fneur.2019.00291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456669PMC
April 2019
1 Read

[Chronic phosphoproteomic in temporal lobe epilepsy mouse models induced by kainic acid].

Beijing Da Xue Xue Bao Yi Xue Ban 2019 Apr;51(2):197-205

Institute of Systems Biomedicine, State Key Laboratory of Natural and Biomimetic Drugs, Department of Molecular and Cellular Pharmacology, Peking University School of Pharmaceutical Science, Beijing 100191, China.

Objective: To investigate functions of proteins and signaling pathways involved in epileptogenesis during the chronic stage of temporal lobe epilepsy in mouse models.

Methods: Kainic acid-induced temporal lobe epilepsy models were conducted, when reaching stage 4 using racine scale, the mice of experimental group were supposed to be successfully established. Pentobarbital sodium was injected to stop epileptic seizure in case of death. Read More

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April 2019
3 Reads

by Edward Docx.

Authors:
Gavin Langlands

Pract Neurol 2019 Apr 17. Epub 2019 Apr 17.

National Creutzfeldt-Jakob Disease Research and Surveillance Unit, University of Edinburgh, Edinburgh, UK

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2018-002032
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http://dx.doi.org/10.1136/practneurol-2018-002032DOI Listing
April 2019
1 Read

Confirmation of high frequency of C9orf72 mutations in patients with frontotemporal dementia from Sweden.

Neurobiol Aging 2019 Mar 27. Epub 2019 Mar 27.

Division for Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden; Karolinska University Hospital, Theme Aging, Unit for Hereditary Dementias QA12, Stockholm, Sweden. Electronic address:

Frontotemporal dementia (FTD) is the second most common early-onset dementia. Up to half of the cases are familial, and several mutations have been identified as pathogenic. Repeat expansion mutations in C9orf72 are the most common genetic cause of FTD and are particularly frequent in Sweden and Finland. Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.03.009DOI Listing
March 2019
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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 Apr 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

Background: Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as of the respiratory muscles, which is the primary cause of disease fatality. To date, over 25 genes have been implicated as causative in ALS with C9orf72, SOD1, FUS, and TARDBP accounting for the majority of genetically positive cases.

Results: We identified two patients of Italian and French ancestry with a clinical diagnosis of juvenile-onset ALS who were mutation-negative in any of the known ALS causative genes. Read More

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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 2019
1 Read

Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration.

Glia 2019 Apr 16. Epub 2019 Apr 16.

Department of Biology, Institute for Genetics, University of Cologne, Cologne, Germany.

Mitochondrial dysfunction causes neurodegeneration but whether impairment of mitochondrial homeostasis in astrocytes contributes to this pathological process remains largely unknown. The m-AAA protease exerts quality control and regulatory functions crucial for mitochondrial homeostasis. AFG3L2, which encodes one of the subunits of the m-AAA protease, is mutated in spinocerebellar ataxia SCA28 and in infantile syndromes characterized by spastic-ataxia, epilepsy and premature death. Read More

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http://dx.doi.org/10.1002/glia.23626DOI Listing

Selective Sensory Axon Reinnervation and TRPV1 Activation.

Mol Neurobiol 2019 Apr 15. Epub 2019 Apr 15.

Division of Neurology, Department of Medicine and the Neuroscience and Mental Health Institute, University of Alberta, 132A-Clinical Sciences Building, 11350 Ave, Edmonton, Alberta, T6G 2G3, Canada.

Current strategies to enhance regeneration of peripheral neurons involve broad activation of sensory, autonomic, and motor axons. Peripheral neuron regeneration is limited in persons with damage or disease of peripheral axons. Here, we provide evidence that subtoxic activation of TRPV1 channels in sensory neurons is associated with activation of growth and subtle changes in skin reinnervation. Read More

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http://link.springer.com/10.1007/s12035-019-1574-6
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http://dx.doi.org/10.1007/s12035-019-1574-6DOI Listing
April 2019
4 Reads

Neurodegeneration and contralateral α-synuclein induction after intracerebral α-synuclein injections in the anterior olfactory nucleus of a Parkinson's disease A53T mouse model.

Acta Neuropathol Commun 2019 Apr 15;7(1):56. Epub 2019 Apr 15.

Neuroplasticity and Neurodegeneration Laboratory, CRIB, Ciudad Real Medical School, University of Castilla-La Mancha, Camino de Moledores s/n, Ciudad Real, 13071, Spain.

Parkinson's disease is characterized by a proteinopathy that includes aggregates of α-synuclein. A recent hypothesis proposes a prion-like spreading mechanism for this α-synucleinopathy. Early neuropathological deposits occur, among others, in the anterior olfactory nucleus (AON). Read More

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http://dx.doi.org/10.1186/s40478-019-0713-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463651PMC

Widespread Striatal Delivery of GDNF from Encapsulated Cells Prevents the Anatomical and Functional Consequences of Excitotoxicity.

Neural Plast 2019 11;2019:6286197. Epub 2019 Mar 11.

Gloriana Therapeutics, Providence, Rhode Island, USA.

Methods: Human ARPE-19 cells engineered to secrete high levels of the glial cell line-derived neurotrophic factor (GDNF) were encapsulated into hollow fiber membranes. The devices were implanted into the rat striatum 1 week prior to striatal quinolinic acid injections. Animals were evaluated using a battery of validated motor tests, and histology was performed to determine the extent of GDNF diffusion and associated prevention of neuronal cell loss and behavioral deficits. Read More

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http://dx.doi.org/10.1155/2019/6286197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432730PMC
March 2019
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RNA Sequencing Reveals Small and Variable Contributions of Infectious Agents to Transcriptomes of Postmortem Nervous Tissues From Amyotrophic Lateral Sclerosis, Alzheimer's Disease and Parkinson's Disease Subjects, and Increased Expression of Genes From Disease-Activated Microglia.

Front Neurosci 2019 28;13:235. Epub 2019 Mar 28.

Parkinson's and Movement Disorders Center, Virginia Commonwealth University, Richmond, VA, United States.

Nervous tissues from both humans with neurodegenerative diseases (NDD) and animals with genetic models of human NDD, such as rare monogenic causes of Amyotrophic Lateral Sclerosis (ALS), Alzheimer's disease (AD), and Parkinson's disease (PD), show activated microglia, suggesting a potential causal role for inflammation in pathogenesis of NDD. We performed paired-end (PE) RNA sequencing (RNA seq) of total RNA's extracted from frozen sections of cervical spinal cords from ALS and CTL subjects, frontal cortical gray matter ribbons of AD and CTL subjects, and ventral midbrains of PD and CTL subjects. Trimmed PE reads were aligned against the hg38 human transcriptome using Tophat2/Bowtie2 (ALS) or HISAT2 (AD and PD) and quantitated with Cufflinks. Read More

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http://dx.doi.org/10.3389/fnins.2019.00235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447612PMC
March 2019
1 Read

The potential roles of aquaporin 4 in amyotrophic lateral sclerosis.

Neurol Sci 2019 Apr 13. Epub 2019 Apr 13.

Computer Center, The Second Affiliated Hospital of Dalian Medical University, 467 Zhong Shan Road, Dalian, 116023, China.

Aquaporin 4 (AQP4) is a primary water channel found on astrocytes in the central nervous system (CNS). Besides its function in water and ion homeostasis, AQP4 has also been documented to be involved in a myriad of acute and chronic cerebral pathologies, including autoimmune neurodegenerative diseases. AQP4 has been postulated to be associated with the incidence of a progressive neurodegenerative disorder known as amyotrophic lateral sclerosis (ALS), a disease that targets the motor neurons, causing muscle weakness and eventually paralysis. Read More

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http://link.springer.com/10.1007/s10072-019-03877-5
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http://dx.doi.org/10.1007/s10072-019-03877-5DOI Listing
April 2019
2 Reads

C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition.

Neurobiol Aging 2019 Mar 11. Epub 2019 Mar 11.

Molecular Neurology, Research Programs Unit, Department of Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.

The hexanucleotide repeat expansion in C9orf72 is a common cause of amyotrophic lateral sclerosis/frontotemporal dementia and also rarely found in other psychiatric and neurodegenerative conditions. Alleles with >30 repeats are often considered an expansion, but the pathogenic repeat length threshold is still unclear. It is also unclear whether intermediate repeat length alleles (often defined either as 7-30 or 20-30 repeats) have clinically significant effects. Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.026DOI Listing
March 2019
1 Read

Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen (ECAS) in Norway: Protocol for validation and a prospective cohort study.

Contemp Clin Trials Commun 2019 Jun 18;14:100347. Epub 2019 Mar 18.

Department of Neurology, Neurologic Clinic, Haukeland University Hospital, Bergen, Norway.

In amyotrophic lateral sclerosis (ALS) cognitive impairment may occur. This could detrimentally influence communication between patient and health-care professionals and make clinical assessment difficult. Given the short life expectancy after diagnosis, it is crucial to accurately identify ALS patients early. Read More

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http://dx.doi.org/10.1016/j.conctc.2019.100347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444026PMC
June 2019
1 Read

Loss of CREST leads to neuroinflammatory responses and ALS-like motor defects in mice.

Transl Neurodegener 2019 2;8:13. Epub 2019 Apr 2.

1Institute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031 China.

Background: Amyotrophic lateral sclerosis (ALS) is a late onset neurodegenerative disease with fast progression. ALS has heavy genetic components in which a series of genetic mutations have been identified. In 2013, Mutations of the gene (also known as ), which functions as a calcium-regulated transcriptional activator, were found in sporadic ALS patients. Read More

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http://dx.doi.org/10.1186/s40035-019-0152-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444434PMC
April 2019
3 Reads

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Eur J Hum Genet 2019 Apr 11. Epub 2019 Apr 11.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.

The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM *606830) catalyzes deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar ataxia and peripheral neuropathy in mice and lower motor neuron-like disease in sheep. In the mutant mice, cerebellar atrophy due to Purkinje cell degeneration is observed, likely due to increased tubulin polyglutamylation in affected brain areas. We report two unrelated individuals who presented with early onset cerebellar atrophy, developmental arrest with progressive muscle weakness, and feeding and respiratory difficulties, accompanied by severe motor neuronopathy. Read More

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http://dx.doi.org/10.1038/s41431-019-0400-yDOI Listing

Two heads are better than one: benefits of joint models for ALS trials.

J Neurol Neurosurg Psychiatry 2019 Apr 11. Epub 2019 Apr 11.

Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2019-320553
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http://dx.doi.org/10.1136/jnnp-2019-320553DOI Listing
April 2019
1 Read

Predictors of amyotrophic lateral sclerosis mimic syndrome.

Acta Neurol Belg 2019 Apr 10. Epub 2019 Apr 10.

ALS Clinic, Neurology Department, Hospital Ramos Mejía, Gral. Urquiza 609, Zip 1221 ADC, Buenos Aires, Argentina.

The term amyotrophic lateral sclerosis mimic syndrome (ALSms) includes pathologies that present signs or symptoms similar to those caused by amyotrophic lateral sclerosis (ALS), which can lead to misdiagnosis. In general, any kind of misdiagnosis can result in negative clinical, psychological and economic consequences as well diagnostic and treatment delay. The objectives were to determine the frequency and to compare the demographic and clinical characteristics of patients with ALS and ALSms in our ALS clinic. Read More

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http://dx.doi.org/10.1007/s13760-019-01135-1DOI Listing
April 2019
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ROCK-ALS: Protocol for a Randomized, Placebo-Controlled, Double-Blind Phase IIa Trial of Safety, Tolerability and Efficacy of the Rho Kinase (ROCK) Inhibitor Fasudil in Amyotrophic Lateral Sclerosis.

Front Neurol 2019 27;10:293. Epub 2019 Mar 27.

Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.

Disease-modifying therapies for amyotrophic lateral sclerosis (ALS) are still not satisfactory. The Rho kinase (ROCK) inhibitor fasudil has demonstrated beneficial effects in cell culture and animal models of ALS. For many years, fasudil has been approved in Japan for the treatment of vasospasm in patients with subarachnoid hemorrhage with a favorable safety profile. Read More

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http://dx.doi.org/10.3389/fneur.2019.00293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446974PMC
March 2019
1 Read

[Jean-Martin Charcot, discovery and nomenclature of amyotrophic lateral sclerosis].

Authors:
Y L Ma Z P Li

Zhonghua Yi Shi Za Zhi 2019 Jan;49(1):14-18

Department of Medical History, School of Basic Medicine Sciences, Harbin Medical University, Harbin 150086, China.

In the 19th century, neurologists discovered a series of diseases characterized by limb weakness and muscle atrophy, but it was not certain whether they were variants of the same disease or completely different diseases. In 1869, Jean-Martin Charcot first diagnosed the disease, and began to use the term "amyotrophic lateral sclerosis" in 1874. The disease is also known as "Lou Gehrig's disease" in the United States, "Charcot's disease" in France, and "Motor Neuron Disease (MND)" in UK. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0255-7053.2019.01.003DOI Listing
January 2019
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Ethical Principles in Patient-Centered Medical Care to Support Quality of Life in Amyotrophic Lateral Sclerosis.

Front Neurol 2019 22;10:259. Epub 2019 Mar 22.

Department of Neurology, University of Ulm, Ulm, Germany.

It is one of the primary goals of medical care to secure good quality of life (QoL) while prolonging survival. This is a major challenge in severe medical conditions with a prognosis such as amyotrophic lateral sclerosis (ALS). Further, the definition of QoL and the question whether survival in this severe condition is compatible with a good QoL is a matter of subjective and culture-specific debate. Read More

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http://dx.doi.org/10.3389/fneur.2019.00259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439311PMC
March 2019
1 Read

Neurofilament light chain as a biomarker in neurological disorders.

J Neurol Neurosurg Psychiatry 2019 Apr 9. Epub 2019 Apr 9.

Institute of Neuroscience and Physiology Department of Psychiatry and Neurochemistry, The Sahlgrenska AcademyUniversity of Gothenburg, Mölndal, Sweden.

In the management of neurological diseases, the identification and quantification of axonal damage could allow for the improvement of diagnostic accuracy and prognostic assessment. Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. Read More

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http://dx.doi.org/10.1136/jnnp-2018-320106DOI Listing
April 2019
2 Reads

Targeting Macrophage for the Treatment of Amyotrophic Lateral Sclerosis.

CNS Neurol Disord Drug Targets 2019 Apr 8. Epub 2019 Apr 8.

Translational Center for Stem Cell Research, Tongji Hospital, Stem Cell Research Center, Tongji University School of Medicine, Shanghai. China.

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that specifically affects motor neurons in the brain and in the spinal cord. Patients with amyotrophic lateral sclerosis usually die from respiratory failure within 3 to 5 years from when the symptoms first appear. Currently, there is no cure for amyotrophic lateral sclerosis. Read More

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http://dx.doi.org/10.2174/1871527318666190409103831DOI Listing
April 2019
2 Reads

Reducing gene dosage induces dopaminergic neuronal loss and motor impairments in knockout mice.

Commun Biol 2019 4;2:125. Epub 2019 Apr 4.

Department of Molecular Medicine, Scripps Research, 10550 North Torrey Pines Road, La Jolla, CA 92037 USA.

Mutations in the gene are associated with early onset Parkinsonism. The mouse, however, does not exhibit neurodegeneration or other Parkinson's disease (PD) phenotypes. Previously, we discovered that translation of Mcl-1, a pro-survival factor, is upregulated in the mouse, suggesting a compensatory mechanism during development. Read More

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http://dx.doi.org/10.1038/s42003-019-0366-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449387PMC

Ginsenoside Rb1 prevents MPTP-induced changes in hippocampal memory via regulation of the α-synuclein/PSD-95 pathway.

Aging (Albany NY) 2019 Apr;11(7):1934-1964

Key Laboratory of Neuroscience, School of Basic Medical Sciences, Guangzhou Medical University, Guangzhou, China.

Memory deficiency is a common non-motor symptom of Parkinson's disease (PD), and conventionally, α-synuclein is considered to be an important biomarker for both motor and cognitive characteristics attributed to PD. However, the role of physiological α-synuclein in cognitive impairment remains undetermined. Ginsenoside Rb1 has been shown to protect dopaminergic neurons (DA) from death and inhibit α-synuclein fibrillation and toxicity . Read More

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http://dx.doi.org/10.18632/aging.101884DOI Listing

Evaluation of remote pulmonary function testing in motor neuron disease.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Apr 7:1-8. Epub 2019 Apr 7.

b Department of Neurology , Penn State College of Medicine , Hershey , PA , USA and.

Introduction: Motor neuron disease (MND) causes respiratory insufficiency, which is managed in part through use of noninvasive ventilation (NIV). Guidelines for the initiation of NIV are based on pulmonary function tests (PFTs), usually performed once every three months. In the setting of MND telemedicine, remote monitoring of respiratory health may permit earlier intervention, but proof of equivalence to conventional PFTs is lacking. Read More

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https://www.tandfonline.com/doi/full/10.1080/21678421.2019.1
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http://dx.doi.org/10.1080/21678421.2019.1587633DOI Listing
April 2019
6 Reads

Sural nerve pathology in TFG-associated motor neuron disease with sensory neuropathy.

Neuropathology 2019 Apr 8. Epub 2019 Apr 8.

Department of Neurology, Peking University First Hospital, Beijing, China.

The tropomyosin-receptor kinase fused gene (TFG) functions in vesicles formation and egress at the endoplasmic reticulum (ER). A heterozygous missense mutation c.854C > T (p. Read More

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http://dx.doi.org/10.1111/neup.12555DOI Listing
April 2019
1 Read
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Motor neuron disease as a treatment responsive paraneoplastic neurological syndrome in patient with small cell lung cancer, anti-Hu antibodies and limbic encephalitis.

J Neurol Sci 2019 May 27;400:158-159. Epub 2019 Mar 27.

Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, University Hospital and Health Services of Trieste, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1016/j.jns.2019.03.024DOI Listing

The metastability of the proteome of spinal motor neurons underlies their selective vulnerability in ALS.

Neurosci Lett 2019 Apr 3;704:89-94. Epub 2019 Apr 3.

Centre for Misfolding Diseases, Department of Chemistry, University of Cambridge, Cambridge, CB2 1EW, UK.

Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease with familial forms linked to numerous mutations in a range of genes. The resulting variant proteins, including SOD1, TDP-43, and FUS, disturb protein homeostasis in a variety of ways and lead to the formation of intracellular inclusion bodies that are characteristic of different neuropathological subtypes of the disease. These inclusions are made up of scores of proteins that do not appear at first to share obvious characteristics other than coaggregation. Read More

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http://dx.doi.org/10.1016/j.neulet.2019.04.001DOI Listing

Amelioration of the nigrostriatal pathway facilitated by ultrasound-mediated neurotrophic delivery in early Parkinson's disease.

J Control Release 2019 Apr 3. Epub 2019 Apr 3.

Departments of Biomedical Engineering, Columbia University, New York, NY 10032, USA; Departments of Radiology, Columbia University, New York, NY 10032, USA; the Columbia Translational Neuroscience Initiative, Columbia University, New York, NY 10032, USA. Electronic address:

The blood-brain barrier (BBB) prevents most drugs from gaining access to the brain parenchyma, which is a recognized impediment to the treatment of neurodegenerative disorders like Parkinson's disease (PD). Focused ultrasound (FUS), in conjunction with systemically administered microbubbles, opens the BBB locally, reversibly and non-invasively. Herein, we show that neither FUS applied over both the striatum and the ventral midbrain, without neurotrophic factors, nor intravenous administration of neurotrophic factors (either through protein or gene delivery) without FUS, ameliorates the damage to the nigrostriatal dopaminergic pathway in the sub-acute MPTP mouse model of early-stage PD. Read More

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http://dx.doi.org/10.1016/j.jconrel.2019.03.030DOI Listing
April 2019
3 Reads
7.705 Impact Factor

High resolution discovery of chromatin interactions.

Nucleic Acids Res 2019 Apr;47(6):e35

Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.

Chromatin interaction analysis by paired-end tag sequencing (ChIA-PET) is a method for the genome-wide de novo discovery of chromatin interactions. Existing computational methods typically fail to detect weak or dynamic interactions because they use a peak-calling step that ignores paired-end linkage information. We have developed a novel computational method called Chromatin Interaction Discovery (CID) to overcome this limitation with an unbiased clustering approach for interaction discovery. Read More

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http://dx.doi.org/10.1093/nar/gkz051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451139PMC

Dynamic interplay between H-current and M-current controls motoneuron hyperexcitability in amyotrophic lateral sclerosis.

Cell Death Dis 2019 Apr 5;10(4):310. Epub 2019 Apr 5.

School of Chemistry and Molecular Bioscience, University of Wollongong, Northfields Avenue, Wollongong, NSW, 2522, Australia.

Amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease (MND) in which humans lose motor functions due to progressive loss of motoneurons in the cortex, brainstem, and spinal cord. In patients and in animal models of MND it has been observed that there is a change in the properties of motoneurons, termed neuronal hyperexcitability, which is an exaggerated response of the neurons to a stimulus. Previous studies suggested neuronal excitability is one of the leading causes for neuronal loss, however the factors that instigate excitability in neurons over the course of disease onset and progression are not well understood, as these studies have looked mainly at embryonic or early postnatal stages (pre-symptomatic). Read More

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http://dx.doi.org/10.1038/s41419-019-1538-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450866PMC
April 2019
2 Reads

Pathological Crying and Laughing in Motor Neuron Disease: Pathobiology, Screening, Intervention.

Front Neurol 2019 21;10:260. Epub 2019 Mar 21.

Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.

Pathological crying and laughing (PCL) has significant quality-of-life implications in amyotrophic lateral sclerosis (ALS); it can provoke restrictive life-style modifications and lead to social isolation. Despite its high prevalence and quality of life implications, it remains surprisingly understudied. Divergent pathophysiological models have been proposed, centered on corticobulbar tract degeneration, prefrontal cortex pathology, sensory deafferentation, and impaired cerebellar gate-control mechanisms. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2019.00260
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http://dx.doi.org/10.3389/fneur.2019.00260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438102PMC
March 2019
4 Reads

Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis.

Science 2019 04;364(6435):89-93

Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, NY, USA.

Paralysis occurring in amyotrophic lateral sclerosis (ALS) results from denervation of skeletal muscle as a consequence of motor neuron degeneration. Interactions between motor neurons and glia contribute to motor neuron loss, but the spatiotemporal ordering of molecular events that drive these processes in intact spinal tissue remains poorly understood. Here, we use spatial transcriptomics to obtain gene expression measurements of mouse spinal cords over the course of disease, as well as of postmortem tissue from ALS patients, to characterize the underlying molecular mechanisms in ALS. Read More

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http://www.sciencemag.org/lookup/doi/10.1126/science.aav9776
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http://dx.doi.org/10.1126/science.aav9776DOI Listing
April 2019
6 Reads

7,8-Dihydroxyflavone Protects Nigrostriatal Dopaminergic Neurons from Rotenone-Induced Neurotoxicity in Rodents.

Parkinsons Dis 2019 3;2019:9193534. Epub 2019 Mar 3.

Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

7,8-Dihydroxyflavone (7,8-DHF) is thought to be a promising therapeutic agent for various neurodegenerative diseases. The major purpose of this study was to investigate the neuroprotective effects of 7,8-DHF on the rotenone-induced motor deficit of Parkinson's disease. Nine-month-old rats were treated with rotenone (2 mg/kg/day, i. Read More

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http://dx.doi.org/10.1155/2019/9193534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421741PMC
March 2019
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Requested withdrawal of mechanical ventilation in six patients with motor neuron disease.

BMJ Support Palliat Care 2019 Apr 3. Epub 2019 Apr 3.

Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

Objectives: Mechanical ventilation (MV) has been shown to improve survival and quality of life in motor neuron disease (MND). However, during the progression of MND, there may come a point when MV is no longer felt appropriate. Association of Palliative Medicine Guidelines have been recently published to help clinicians withdraw MV at the request of patients with MND in a safe and compassionate manner to ensure that symptoms of distress and dyspnoea are minimised. Read More

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http://dx.doi.org/10.1136/bmjspcare-2017-001464DOI Listing
April 2019
4 Reads

Longitudinal F-FDG PET and MRI Reveal Evolving Imaging Pathology That Corresponds to Disease Progression in a Patient With ALS-FTD.

Front Neurol 2019 19;10:234. Epub 2019 Mar 19.

Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States.

Single time point positron emission tomography (PET) studies of patients with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD), have demonstrated hypometabolism or hypermetabolism in certain brain regions. To determine whether longitudinal (at baseline and 20.4 months later) PET and magnetic resonance imaging (MRI) reveal evolving brain imaging pathology corresponding to clinical progression in a patient with ALS-FTD, cerebral glucose metabolic rate, cortical thickness (CT) and cortical area (CA) were obtained and symmetric percent change (SPC) for each calculated. Read More

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http://dx.doi.org/10.3389/fneur.2019.00234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433744PMC
March 2019
3 Reads

Tracking a Fast-Moving Disease: Longitudinal Markers, Monitoring, and Clinical Trial Endpoints in ALS.

Front Neurol 2019 19;10:229. Epub 2019 Mar 19.

Computational Neuroimaging Group, Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.

Amyotrophic lateral sclerosis (ALS) encompasses a heterogeneous group of phenotypes with different progression rates, varying degree of extra-motor involvement and divergent progression patterns. The natural history of ALS is increasingly evaluated by large, multi-time point longitudinal studies, many of which now incorporate presymptomatic and post-mortem assessments. These studies not only have the potential to characterize patterns of anatomical propagation, molecular mechanisms of disease spread, but also to identify pragmatic monitoring markers. Read More

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http://dx.doi.org/10.3389/fneur.2019.00229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433752PMC
March 2019
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Role of Magnetic Resonance Imaging in Diagnosis of Motor Neuron Disease: Literature Review and Two Case Illustrations.

Perm J 2019 ;23

Department of Neurology, Ohio State University Wexner Medical Center, Columbus.

Motor neuron diseases (MNDs) are a group of devastating neurologic disorders that cause specific damage to the motor neuron cells. The current diagnosis of MND is based on results of the clinical examination and neurophysiologic studies. The length of time of referral to a neuromuscular neurologist and the lack of validated diagnostic criteria can delay diagnosis. Read More

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http://dx.doi.org/10.7812/TPP/18-131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380476PMC
January 2019

Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis.

J Neuropathol Exp Neurol 2019 May;78(5):416-425

Department of Pathology and Experimental Therapeutics, University of Barcelona, Spain.

Dyneins are major components of microtubules. Dynein assembly is modulated by a heterogeneous group of dynein axonemal assembly factors (DNAAFs). The present study analyzes dynein axonemal assembly factor 1 (DNAAF1) and leucine-rich repeat-containing protein 50 (LRRC50), the corresponding encoded protein, in lower motor neurons in spinal cord of sALS postmortem samples and hSOD1-G93A transgenic mice compared with controls. Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nlz019DOI Listing
May 2019
6 Reads

FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy.

Acta Neuropathol 2019 Apr 1. Epub 2019 Apr 1.

Technische Universität Dresden, Center for Regenerative Therapies Dresden, Fetscherstr. 105, 01307, Dresden, Germany.

Amyotrophic lateral sclerosis (ALS) is a lethal disease characterized by motor neuron degeneration and associated with aggregation of nuclear RNA-binding proteins (RBPs), including FUS. How FUS aggregation and neurodegeneration are prevented in healthy motor neurons remain critically unanswered questions. Here, we use a combination of ALS patient autopsy tissue and induced pluripotent stem cell-derived neurons to study the effects of FUS mutations on RBP homeostasis. Read More

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http://dx.doi.org/10.1007/s00401-019-01998-xDOI Listing
April 2019
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Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome.

J Pediatr Neurosci 2018 Oct-Dec;13(4):471-473

Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India.

Brown-Vialetto-Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio-Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter genes. We describe a child with genetically proven BVVL syndrome where prompt treatment with riboflavin showed good results. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/4/471
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http://dx.doi.org/10.4103/JPN.JPN_131_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413615PMC
April 2019
2 Reads

Glutamatergic innervation onto striatal neurons potentiates GABAergic synaptic output.

J Neurosci 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurophysiology, NeuroCure Cluster of Excellence, Charité Universitätsmedizin, 10117 Berlin, Germany.

Striatal output pathways are known to play a crucial role in the control of movement. One possible component for shaping the synaptic output of striatal neuron is the glutamatergic input that originates from cortex and thalamus. Although, reports focusing on quantifying glutamatergic-induced morphological changes in striatum exist, the role of glutamatergic input in regulating striatal function remains poorly understood. Read More

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http://dx.doi.org/10.1523/JNEUROSCI.2630-18.2019DOI Listing
April 2019
1 Read