Art. XXIII.—Syphilitic Affections of the Nervous System, and a Case of Symmetrical Muscular Atrophy. with other Contributions to the Pathology of the Spinal Marrow.

1868 ◽  
Vol 110 ◽  
pp. 511-513
Author(s):  
Thomas Reade
Keyword(s):  
Nervous System ◽  
Muscular Atrophy ◽  
Spinal Marrow

Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders

2020 ◽  
Vol 25 (43) ◽  
pp. 4560-4569 ◽  
Author(s):  
Yichen Lee ◽  
Bo H. Lee ◽  
William Yip ◽  
Pingchen Chou ◽  
Bak-Sau Yip
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Nervous System ◽  
Trinucleotide Repeat ◽  
Muscular Atrophy ◽  
Electric Signal ◽  
Motor Neuropathy ◽  
Post Translational Modification ◽  
Neurofilament Proteins ◽  
Type Iv ◽  
Lateral Sclerosis

Neurofilaments: light, medium, and heavy (abbreviated as NF-L, NF-M, and NF-H, respectively), which belong to Type IV intermediate filament family (IF), are neuron-specific cytoskeletal components. Neurofilaments are axonal structural components and integral components of synapses, which are important for neuronal electric signal transmissions along the axons and post-translational modification. Abnormal assembly of neurofilaments is found in several human neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), infantile spinal muscular atrophy (SMA), and hereditary sensory-motor neuropathy (HSMN). In addition, those pathological neurofilament accumulations are known in α-synuclein in Parkinson’s disease (PD), Aβ and tau in Alzheimer’s disease (AD), polyglutamine in CAG trinucleotide repeat disorders, superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP43), neuronal FUS proteins, optineurin (OPTN), ubiquilin 2 (UBQLN2), and dipeptide repeat protein (DRP) in amyotrophic lateral sclerosis (ALS). When axon damage occurs in central nervous disorders, neurofilament proteins are released and delivered into cerebrospinal fluid (CSF), which are then circulated into blood. New quantitative analyses and assay techniques are well-developed for the detection of neurofilament proteins, particularly NF-L and the phosphorylated NF-H (pNF-H) in CSF and serum. This review discusses the potential of using peripheral blood NF quantities and evaluating the severity of damage in the nervous system. Intermediate filaments could be promising biomarkers for evaluating disease progression in different nervous system disorders.

scholarly journals Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy

eLife ◽  
2019 ◽  
Vol 8 ◽  
Author(s):  
Tai-Heng Chen ◽  
Jun-An Chen
Keyword(s):  
Nervous System ◽  
Neurodegenerative Diseases ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Cell Types ◽  
Spinal Motor Neurons ◽  
Potential Applications ◽  
The Central Nervous System

Two crucial questions in neuroscience are how neurons establish individual identity in the developing nervous system and why only specific neuron subtypes are vulnerable to neurodegenerative diseases. In the central nervous system, spinal motor neurons serve as one of the best-characterized cell types for addressing these two questions. In this review, we dissect these questions by evaluating the emerging role of regulatory microRNAs in motor neuron generation in developing embryos and their potential contributions to neurodegenerative diseases such as spinal muscular atrophy (SMA). Given recent promising results from novel microRNA-based medicines, we discuss the potential applications of microRNAs for clinical assessments of SMA disease progression and treatment.

On the reflex function of the medulla oblongata and spinalis, or the principle of tone in the muscular system

1837 ◽  
Vol 3 ◽  
pp. 210-210
Keyword(s):  
Nervous System ◽  
Medulla Oblongata ◽  
Hydrocyanic Acid ◽  
Muscular System ◽  
Spinal Marrow ◽  
Reflex Action ◽  
The Will ◽  
The Brain ◽  
Morbid State

The author, after commenting on the opinions of Le Gallois and Cruveilhier relating to the functions of the spinal marrow, adverts to a property or function of the medulla oblongata and spinalis, which he considers as having escaped the notice of these and all other physiologists; namely, that by which an impression made upon the extremities of certain nerves is conveyed to these two portions of the nervous system, and reflected along other nerves to parts different from those which received the impression. He distinguishes muscular actions into three kinds: first, those directly consequent on volition; secondly, those which are involuntary, and dependent on simple irritability; and thirdly, those resulting from the reflex action above described, and which include those of the sphincter muscles, the tonic condition of the muscles in general, the acts of deglutition, of respiration, and many motions, which, under other circumstances, are under the guidance of the will. Volition ceases when the head or brain is removed; yet, as he shows by various experiments, movements may be then excited in the muscles of the limbs and trunk, by irritations applied to the extremities of the nerves which remain in communication with the spinal marrow: but these actions cease as soon as the spinal marrow is destroyed. Hence the author concludes that they are the effect of the reflex Action of the spinal marrow, which exists independently of the brain; and, indeed, exists in each part of the organ independently of every other part. He considers that this reflex function is capable of exaltation by certain agents, such as opium and strychnine, which in frogs produce a tetanic and highly excitable state of muscular irritability. Hence he is led to view the reflex function as the principle of tone in the muscular system. He considers that certain poisons, such as the hydrocyanic acid, act by destroying this particular function. The effects of dentition, of alvine irritation, and of hydrophobia, of sneezing, coughing, vomiting, tenesmus, &c. &c., are adduced as exemplifications of the operation of the same principle when in a morbid state of exaltation.

Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0

2019 ◽  
Vol 86 (5) ◽  
pp. 801-802 ◽  
Author(s):  
Kenichi Maeda ◽  
Pin Fee Chong ◽  
Fumiya Yamashita ◽  
Satoshi Akamine ◽  
Saori Kawakami ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type

scholarly journals The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

2020 ◽  
Vol 65 (11) ◽  
pp. 1003-1017
Author(s):  
Lena-Luise Becker ◽  
Hormos Salimi Dafsari ◽  
Jens Schallner ◽  
Dalia Abdin ◽  
Michael Seifert ◽  
...  
Keyword(s):  
Nervous System ◽  
Large Scale ◽  
Muscular Atrophy ◽  
Cytoplasmic Dynein ◽  
Chain Gene ◽  
Genomic Profiling ◽  
Dimerization Domain ◽  
Disease Manifestation ◽  
Domain Specific ◽  
Severe Intellectual Disability

AbstractMutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant mental retardation syndrome 13 (MRD13). Phenotypes and genotypes of ten pediatric patients with pathogenic DYNC1H1 variants were analyzed in a multi-center study. Data mining of large-scale genomic variant databases was used to investigate domain-specific vulnerability and conservation of DYNC1H1. We identified ten patients with nine novel mutations in the DYNC1H1 gene. These patients exhibit a broad spectrum of clinical findings, suggesting an overlapping disease manifestation with intermixed phenotypes ranging from neuropathy (peripheral nervous system, PNS) to severe intellectual disability (central nervous system, CNS). Genomic profiling of healthy and patient variant datasets underlines the domain-specific effects of genetic variation in DYNC1H1, specifically on toleration towards missense variants in the linker domain. A retrospective analysis of all published mutations revealed domain-specific genotype–phenotype correlations, i.e., mutations in the dimerization domain with reductions in lower limb strength in DYNC1H1–NMD and motor domain with cerebral malformations in DYNC1H1–NDD. We highlight that the current classification into distinct disease entities does not sufficiently reflect the clinical disease manifestation that clinicians face in the diagnostic work-up of DYNC1H1-related disorders. We propose a novel clinical classification for DYNC1H1-related disorders encompassing a spectrum from DYNC1H1–NMD with an exclusive PNS phenotype to DYNC1H1–NDD with concomitant CNS involvement.

scholarly journals Changes in the Nervous System and Musculature of Old Rats

1971 ◽  
Vol 8 (4) ◽  
pp. 320-332 ◽  
Author(s):  
G. van Steenis ◽  
R. Kroes
Keyword(s):  
Nervous System ◽  
Brain Stem ◽  
Wallerian Degeneration ◽  
Muscular Atrophy ◽  
Segmental Demyelination ◽  
Skeletal Musculature ◽  
Neurogenic Muscular Atrophy ◽  
Old Rats ◽  
Lower Brain Stem ◽  
The Brain

Changes in the nervous system and musculature of normal 34-month-old rats are described. Wallerian degeneration as well as segmental demyelination were observed in the peripheral nervous system, with changes more severe in the sciatic than in the brachial nerves. Signs of nerve-fibre degeneration were also seen in the cord and lower brain stem. The degenerative changes were usually mild, but in a number of animals there was severe degeneration of the gracile tract and lateral columns. Other changes in the nervous system included lipochrome pigment in nerve cells and other cellular elements throughout brain and cord, and eosinophilic bodies in the lower brain stem and cord. In some animals the ventricular system in the brain was dilated. Changes in the skeletal musculature were believed to represent neurogenic muscular atrophy secondary to changes in the nervous system.

scholarly journals XXVI. On the reflex function of the medulla oblongata and medulla spi­nalis

1833 ◽  
Vol 123 ◽  
pp. 635-665 ◽  
Keyword(s):  
Nervous System ◽  
Medulla Oblongata ◽  
The Other ◽  
Spinal Marrow ◽  
Moelle Épinière ◽  
Animal Economy ◽  
Other Hand ◽  
Series Of Experiments ◽  
Sufficient Precision ◽  
Système Nerveux

The higher departments of every science are doubtless its general principles and its laws. These have a claim to our consideration beyond that of insulated facts or mere details. Impressed with this truth, I have hitherto devoted my attention chiefly to the laws and principles of physiology. In a former memoir, I gave the outline of one of the most general of the laws of this science, —that memoir, I propose to give an account of a principle of action in the animal economy, which has not hitherto, I think, been distinguished with sufficient precision from the other vital and animal functions. The principle to which I have adverted is connected, in a peculiar manner, with the medulla oblongata and the medulla spinalis. There is still much dis­crepancy of opinion amongst physiologists, in regard to the properties and functions of these parts of the nervous system. Legallois concluded, from his interesting series of experiments, that the spinal marrow, as a whole, and in distinct portions, is the exclusive source of sensation and voluntary motion. He observes, “La vie du tronc dépend de la moëlle épinière, et celle de chaque partie dépend spécialement de la portion de cette moëlle dont elle reçoit ses nerfs. De plus, il est facile de démontrer que cette prérogative de la moëlle épinière, d’être la source du sentiment et de tous les mouvemens volontaires du tronc, lui appartient exclusivement à tout autre organe.” The Reporters of the Institute adopt the conclusions of Legallois: "M. Legal lois,” they observe,“ a démontré que la section de la moëlle épinière sur les premières ou sur les dernières vertèbres cervicales, n’arrête que les mouvemens inspiratoires, et qu’elle laisse subsister dans tout le corps le sentiment et les mouvemens volontaires. Cette distinction est capitate: personne ne l’avait faite avant lui.” M. Cruveilhier, on the other hand, denounces this view of the functions of the spinal marrow as one of the errors of modern physiology. He observes, “L’indepéndence des diverses parties de la moëlle les unes des autres, l’indepéndence de la moëlle du cerveau, assez généralement admise dans ces derniers temps, me parait une grave erreur physiologique fondée sur d’ingénieuses expériences. L’opinion des anciens, qui regardaient la moëlle comme un gros cordon nerveux destiné à repondre lui seul à tous les nerfs de l’économie, pour transmettre en définitive au cerveau les impressions, ou pour en recevoir les impulsions volontaires ou organiques, cette opinion est bien plus en harmonie avec les faits, avec la grande loi anatomique de la continuité du système nerveux.”

scholarly journals XII.—Of the Third Pair of Nerves, being the first of a series of papers in explanation of the difference in the origins of the Nerves of the Encephalon, as compared with those which arise from the Spinal Marrow

1839 ◽  
Vol 14 (1) ◽  
pp. 224-228 ◽  
Author(s):  
Charles Bell
Keyword(s):  
Nervous System ◽  
Best Interests ◽  
Spinal Marrow ◽  
The Third ◽  
The Difference ◽  
The Brain

It is not a little remarkable, that in an age which assumes to itself the character of devotion to science, in anatomy, a science which embraces the best interests of humanity, this question should remain unanswered; What is the meaning of the nerves of the spinal marrow being in regular order and perfectly symmetrical: whilst the ten nerves arising from the brain present no similarity one to another, and agree neither in origin, size, nor distribution?It is plain that we must be in the dark, not only with respect to the knowledge of the nervous system, but of the animal frame generally, whilst such a question is open and courts inquiry, and yet remains without an effort being made towards its solution. We must, I fear, attribute this neglect in part only to the difficulty of the inquiry, and much to the indifference to all that does not tend directly to profit; on which account it has the better demand on the attention of a learned and philosophical Society.

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