scholarly journals A Case of Cervical Spondylotic Amyotrophy Mimicking Amyotrophic Lateral Sclerosis

2020 ◽  
Vol 12 (3) ◽  
pp. 314-320
Author(s):  
Pretty Sara Idiculla ◽  
Raghav Govindarajan
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Muscular Atrophy ◽  
Lower Limbs ◽  
Left Hand ◽  
Sensory Deficits ◽  
Cervical Spondylotic Amyotrophy ◽  
Electrophysiological Studies ◽  
Muscle Groups ◽  
T2 Hyperintensity ◽  
Lateral Sclerosis

Cervical spondylotic amyotrophy (CSA) is a rare clinical condition characterized by weakness and atrophy of the upper limb with minimal to no associated sensory deficits. The detection of the disease is based on clinical features at presentation, neurological examination, electrophysiological studies, and imaging. The proposed pathophysiological mechanisms include selective damage to the ventral root or anterior horn cells of the spinal cord. Depending on the muscle groups that are involved, CSA is broadly classified into a proximal type and a distal type. The clinical profiles of patients with CSA and ALS have a very close resemblance to each other, especially at the early stages of the disease. Cervical spine magnetic resonance imaging (MRI) may show T2 hyperintensity in both proximal and distal types. Electromyogram demonstrates denervation potentials and reduced motor unit potentials in the affected muscles. The conservative management is often the first-line modality, and those who fail to respond to conservative treatment have severe muscular atrophy and weakness, and distal-type CSA are considered potential candidates for surgery. We present the case of a 57-year-old female who presented with a 1-year history of left-hand weakness and wasting with no sensory deficits. She denied any involvement of her other hand or bilateral lower limbs, and she was referred to our clinic with the potential diagnosis of amyotrophic lateral sclerosis (ALS). An elaborate history, physical examination, electrophysiological studies, and imaging assisted us in reaching the diagnosis of CSA, 1 year after the onset of symptoms.

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 Utility of Transcranial Magnetic Simulation in Studying Upper Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis

2021 ◽  
Vol 11 (7) ◽  
pp. 906
Author(s):  
Nimeshan Geevasinga ◽  
Mehdi Van den Bos ◽  
Parvathi Menon ◽  
Steve Vucic
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Cortical Excitability ◽  
Muscular Atrophy ◽  
Close Relationship ◽  
Bulbar Onset ◽  
Als Patients ◽  
Transcranial Magnetic Simulation ◽  
Cortical Dysfunction ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is characterised by progressive dysfunction of the upper and lower motor neurons. The disease can evolve over time from focal limb or bulbar onset to involvement of other regions. There is some clinical heterogeneity in ALS with various phenotypes of the disease described, from primary lateral sclerosis, progressive muscular atrophy and flail arm/leg phenotypes. Whilst the majority of ALS patients are sporadic in nature, recent advances have highlighted genetic forms of the disease. Given the close relationship between ALS and frontotemporal dementia, the importance of cortical dysfunction has gained prominence. Transcranial magnetic stimulation (TMS) is a noninvasive neurophysiological tool to explore the function of the motor cortex and thereby cortical excitability. In this review, we highlight the utility of TMS and explore cortical excitability in ALS diagnosis, pathogenesis and insights gained from genetic and variant forms of the disease.

scholarly journals Motor Unit Number Estimation in Neuromuscular Disease

2008 ◽  
Vol 35 (2) ◽  
pp. 153-159 ◽  
Author(s):  
Omid Rashidipour ◽  
K. Ming Chan
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Unit ◽  
Neuromuscular Disease ◽  
Muscular Atrophy ◽  
Neuromuscular Diseases ◽  
Neuronal Loss ◽  
Response To Treatment ◽  
Motor Unit Number Estimation ◽  
Electrophysiological Method ◽  
Lateral Sclerosis

Motor unit number estimation (MUNE) is an electrophysiological method designed to quantify motor unit loss in target muscles of interest. Most of the techniques are noninvasive and are therefore well suited for longitudinal monitoring. In this brief review, we describe the more commonly used techniques and their applications in amyotrophic lateral sclerosis, poliomyelitis, spinal muscular atrophy and hereditary sensorimotor neuropathies. Findings in some of these studies offer important pathophysiological insights. Since conventional electrophysiologic methods are not sensible measures of motor neuronal loss, MUNE could play a potentially important role in the diagnosis, monitoring of disease progression and response to treatment in neuromuscular diseases in which motor unit loss is a major feature.

scholarly journals Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis

BMJ Open ◽  
2014 ◽  
Vol 4 (5) ◽  
pp. e005213 ◽  
Author(s):  
Yuichi Riku ◽  
Naoki Atsuta ◽  
Mari Yoshida ◽  
Shinsui Tatsumi ◽  
Yasushi Iwasaki ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Comparative Study ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Lateral Sclerosis ◽  
Progressive Muscular Atrophy

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

2018 ◽  
Vol 8 (12) ◽  
pp. 212 ◽  
Author(s):  
Darija Šoltić ◽  
Melissa Bowerman ◽  
Joanne Stock ◽  
Hannah Shorrock ◽  
Thomas Gillingwater ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Spinal Muscular Atrophy ◽  
Calcium Binding ◽  
Bioinformatics Analysis ◽  
Muscular Atrophy ◽  
Molecular Pathways ◽  
Motor Neuron Degeneration ◽  
Neuron Degeneration ◽  
Therapeutic Development ◽  
Lateral Sclerosis

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. Fifteen proteins were found to be differentially expressed in two or more proteomic studies of both ALS and SMA, and bioinformatics analysis identified over-representation of proteins known to associate in vesicles and molecular pathways, including metabolism of proteins and vesicle-mediated transport—both of which converge on endoplasmic reticulum (ER)-Golgi trafficking processes. Calreticulin, a calcium-binding chaperone found in the ER, was associated with both pathways and we independently confirm that its expression was decreased in spinal cords from SMA and increased in spinal cords from ALS mice. Together, these findings offer significant insights into potential common targets that may help to guide the development of new therapies for both diseases.

Diffusion-Tensor MR Imaging of Corticospinal Tract in Amyotrophic Lateral Sclerosis and Progressive Muscular Atrophy

Radiology ◽  
2005 ◽  
Vol 237 (1) ◽  
pp. 258-264 ◽  
Author(s):  
Mirco Cosottini ◽  
Marco Giannelli ◽  
Gabriele Siciliano ◽  
Guido Lazzarotti ◽  
Maria Chiara Michelassi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Mr Imaging ◽  
Corticospinal Tract ◽  
Diffusion Tensor ◽  
Muscular Atrophy ◽  
Diffusion Tensor Mr Imaging ◽  
Lateral Sclerosis ◽  
Progressive Muscular Atrophy

scholarly journals AN AYURVEDIC CASE REPORT ON AMYOTROPHIC LATERAL SCLEROSIS

2021 ◽  
Vol 9 (11) ◽  
pp. 2903-2908
Author(s):  
Ambika. K ◽  
Arundhathi. K ◽  
Lekshmi G. Krishna
Keyword(s):  
Quality Of Life ◽  
Skeletal Muscle ◽  
Amyotrophic Lateral Sclerosis ◽  
Case Report ◽  
Lower Limbs ◽  
Skeletal Muscle Weakness ◽  
Treatment Principle ◽  
Severe Type ◽  
Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a common and most severe type of Motor Neuron Disease. It is characterized by progressive skeletal muscle weakness, wasting and fasciculations. Survival is for 3-5 years, and the death is from respiratory paralysis. The incidence of ALS is between 0.6 and 3.8 per 100000 persons per year. Males are predominantly affected. Here is a case report of 45yrs old male who presented with complaints of difficulty in walking since 3years, with an insidious asymmetric onset of weakness of bilateral lower limbs with wasting and fasciculations. In Ayurveda, the case was symptomatologically diagnosed as Mamsa Sosha, which occurs as the result of obstruction of Snayu and Rakthadhamanis (Mamsavaha srotomoolas). The assessment was done using ALSFRS-R Scale. The treatment was aimed at improving the quality of life and also decreasing the rate of disease progression. The treatment principle adopted was Srothosodhana (Ama- Avaranaghna cikitsa) and Brimhana. Promising results were obtained after treatment. Keywords: ALS, MND, Ayurveda, Avaranaghna cikitsa, Mamsa Sosha, Mamsa Kshaya

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