scholarly journals Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study

Life ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 5
Author(s):  
Guido Primiano ◽  
Paolo Mariotti ◽  
Ida Turrini ◽  
Cristina Sancricca ◽  
Andrea Sabino ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Cohort Study ◽  
Clinical Manifestations ◽  
Cerebellar Atrophy ◽  
Mitochondrial Diseases ◽  
Mitochondrial Respiratory Chain ◽  
Cross Sectional ◽  
Spinal Cord Involvement ◽  
The Central Nervous System ◽  
Few Data

The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases.

Recurrent Hypothalamic Dysfunction in Seropositive Neuromyelitis Optica

2020 ◽  
pp. 10.1212/CPJ.0000000000001012
Author(s):  
Mary Clare McKenna ◽  
Nuala McNicholas ◽  
Conor Fearon ◽  
David Bradley
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Neuromyelitis Optica ◽  
Clinical Manifestations ◽  
Inflammatory Disorder ◽  
Diverse Range ◽  
Hypothalamic Dysfunction ◽  
Inappropriate Secretion ◽  
Clinical Presentations ◽  
The Central Nervous System

Background:Neuromyelitis optica (NMO) is a rare autoimmune inflammatory disorder of the central nervous system1. Pathogenic aquaporin 4 (AQP4) antibodies are present in 65-88% of cases1. The majority of cases follow a relapsing course preferentially involving the optic nerves, spinal cord, brainstem, diencephalon or cerebral regions1, 2. Within the acute diencephalic clinical presentations, symptomatic hypothalamic lesions may have a diverse range of clinical manifestations including homeostatic dysfunction of neuroendocrine systems2-4. We report a case of recurrent hypothalamic dysfunction secondary to NMO manifesting as syndrome of inappropriate secretion of antidiuretic hormone (SIADH), thermal dysregulation, dysautonomia and disorder of alertness.

scholarly journals Mitochondrial Dysfunction and Multiple Sclerosis

Biology ◽  
2019 ◽  
Vol 8 (2) ◽  
pp. 37 ◽  
Author(s):  
Isabella Peixoto de Barcelos ◽  
Regina M. Troxell ◽  
Jennifer S. Graves
Keyword(s):  
Multiple Sclerosis ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Diseases ◽  
Mitochondrial Respiratory Chain ◽  
Channel Changes ◽  
Respiratory Chain Deficiency ◽  
Inflammatory Phase ◽  
Chronic Oxidative Stress ◽  
Progressive Neurodegeneration ◽  
The Central Nervous System

In recent years, several studies have examined the potential associations between mitochondrial dysfunction and neurodegenerative diseases such as multiple sclerosis (MS), Parkinson’s disease and Alzheimer’s disease. In MS, neurological disability results from inflammation, demyelination, and ultimately, axonal damage within the central nervous system. The sustained inflammatory phase of the disease leads to ion channel changes and chronic oxidative stress. Several independent investigations have demonstrated mitochondrial respiratory chain deficiency in MS, as well as abnormalities in mitochondrial transport. These processes create an energy imbalance and contribute to a parallel process of progressive neurodegeneration and irreversible disability. The potential roles of mitochondria in neurodegeneration are reviewed. An overview of mitochondrial diseases that may overlap with MS are also discussed, as well as possible therapeutic targets for the treatment of MS and other neurodegenerative conditions.

scholarly journals MENINGITIS TUBERCULOSIS

2018 ◽  
Vol 17 (3) ◽  
pp. 159
Author(s):  
Silvia Rachmayati ◽  
Ida Parwati ◽  
A Rizal ◽  
D Oktavia
Keyword(s):  
Predictive Value ◽  
Gold Standard ◽  
Clinical Manifestations ◽  
Clinical Pathology ◽  
Cross Sectional ◽  
Suspected Tuberculosis ◽  
Accurate Treatment ◽  
The Central Nervous System ◽  
Delays In Diagnosis ◽  
Tuberculosis Meningitis

Tuberculosis meningitis is one of the clinical manifestations of extra-pulmonary TB, which is localized in the central nervous system(CNS). The mortality of these patients is usually caused by the delays in diagnosis and treatment; hence up to this day tuberculosismeningitis remains a health problem. The diagnosis of tuberculosis meningitis based on the discovery of M.tuberculosis established inthe cerebrospinal fluid (CSF) and is the gold standard by culture, although the examination results will be obtained after 6–8 weeks.Nevertheless the patient in this case needs an immediate and accurate treatment. Recently there is a rapid and accurate test to confirmthe diagnosis of tuberculosis meningitis, that is the detection of an immunoglobulin (Ig) M and G in the serum. The aim of this study isto know the validity and the correlation of IgG and IgM test to the gold standard by investigated them. The research is an observationalstudy conducted cross sectional in the Clinical Pathology Department of Hasan Sadikin Hospital, from October 2008 up to January 2009.Eighty samples were obtained, which included the criteria for patients with suspected tuberculosis meningitis. The result of this studyshows: sensitivity 94.1%, specificity 100%, positive predictive value 100%, negative predictive value 95.8%, positive infinite likelihoodratio (LHR), negative LHR 0.06 and kappa 0.95. According to this study it can be concluded, that the IgM/IgG TB is a test that has anexcellent validity and correlation for the future.

Balance deficit with opened or closed eyes reveals involvement of different structures of the central nervous system in multiple sclerosis

2013 ◽  
Vol 20 (1) ◽  
pp. 81-90 ◽  
Author(s):  
Luca Prosperini ◽  
Nikolaos Petsas ◽  
Eytan Raz ◽  
Emilia Sbardella ◽  
Francesca Tona ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Center Of Pressure ◽  
Cervical Cord ◽  
Cross Sectional ◽  
Upper Cervical ◽  
The Central Nervous System ◽  
Balance Deficit

Objective: To evaluate whether balance deficit in patients with multiple sclerosis (MS), as assessed with eyes opened (EO) and closed (EC), is associated with damage of different structures of the central nervous system (CNS). Methods: Fifty patients with MS and 20 healthy controls (HCs) underwent static posturography to calculate the body’s center of pressure displacement (COP path) with EO and EC. They were scanned using a 3.0T magnet to obtain PD/T2 and 3D-T1-weighted images of the brain and spinal cord. We determined the mid-sagittal cerebellum area (MSCA) and upper cervical cord cross-sectional area (UCCA). We also measured the patients’ lesion volumes (T2-LVs) on the whole brain and at different infratentorial levels. Results: MS patients had wider COP paths with both EO and EC ( p < 0.001), and lower values in both MSCA ( p = 0.01) and UCCA ( p = 0.008) than HCs. The COP path with EO was associated with MSCA (Beta = − 0.58; p = 0.004) and T2-LV on middle cerebellar peduncles (Beta = 0.59; p = 0.002). The COP path with EC was associated with UCCA (Beta= − 22.74; p = 0.003) and brainstem T2-LV (Beta = 0.52; p = 0.01). Conclusions: Balance deficit in MS was related to atrophy of both the cerebellum and spinal cord, but the extent of COP path under the two different conditions (EO or EC) implied different patterns of damage in the CNS.

Spinal cord involvement in adult-onset metabolic and genetic diseases

2018 ◽  
Vol 90 (2) ◽  
pp. 211-218 ◽  
Author(s):  
Cecilia Marelli ◽  
Ettore Salsano ◽  
Letterio S Politi ◽  
Pierre Labauge
Keyword(s):  
Spinal Cord ◽  
Metabolic Diseases ◽  
Genetic Diseases ◽  
Mitochondrial Diseases ◽  
Mri Findings ◽  
Spinal Cord Atrophy ◽  
Main Site ◽  
Spinal Cord Involvement ◽  
Pubmed Search ◽  
Diagnostic Work

In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and atrophy are commonly associated with a large variety of causes (inflammation, infections, neoplasms, vascular and spondylotic diseases). Occasionally, they can be due to rare metabolic or genetic diseases, in which the spinal cord involvement can be a prominent or even predominant feature, or a secondary one. This review focuses on these rare diseases and associated spinal cord abnormalities, which can provide important but over-ridden clues for the diagnosis. The review was based on a PubMed search (search terms: ‘spinal cord’ AND ‘leukoencephalopathy’ OR ‘leukodystrophy’; ‘spinal cord’ AND ‘vitamin’), further integrated according to the authors’ personal experience and knowledge. The genetic and metabolic diseases of adulthood causing spinal cord signal alterations were identified and classified into four groups: (1) leukodystrophies; (2) deficiency-related metabolic diseases; (3) genetic and acquired toxic/metabolic causes; and (4) mitochondrial diseases. A number of genetic and metabolic diseases of adulthood causing spinal cord atrophy without signal alterations were also identified. Finally, a classification based on spinal MRI findings is presented, as well as indications about the diagnostic work-up and differential diagnosis. Some of these diseases are potentially treatable (especially if promptly recognised), while others are inherited as autosomal dominant trait. Therefore, a timely diagnosis is needed for a timely therapy and genetic counselling. In addition, spinal cord may be the main site of pathology in many of these diseases, suggesting a tempting role for spinal cord abnormalities as surrogate MRI biomarkers.

scholarly journals COVID-19-Associated Acute Myelitis

Doctor Ru ◽  
2021 ◽  
Vol 20 (9) ◽  
pp. 31-35
Author(s):  
V.N. Grigoryeva ◽  
◽  
E.A. Ruina ◽  
A.A. Lesnikova ◽  
◽  
...  
Keyword(s):  
Spinal Cord ◽  
Early Diagnosis ◽  
Clinical Manifestations ◽  
Complete Regression ◽  
Timely Initiation ◽  
Key Points ◽  
Academic Publications ◽  
Leg Weakness ◽  
The Central Nervous System ◽  
Initiation Of Therapy

Objective of the Review: To summarise the data of academic publications dedicated to myelitis as a COVID-19 complication in order to improve its early diagnosis and management in neurology. Key Points. International databases have 18 cases of COVID-19-associated acute myelitis described. COVID-19-associated myelitis should be suspected when a patient with clinical manifestations of this infection or 1-2 weeks after its regression has increasing leg weakness or tetraparesis, sensation disorders and pelvic dysfunction for several days. To prove the diagnosis and exclude other causes of spinal cord damages, it is essential to perform spinal magnetic resonance imaging, spinal fluid tests, and blood examinations. The pathogenesis of COVID-19-associated myelitis is primarily a result of hyperreactive system inflammatory response and a secondary autoimmune-mediated spinal cord damage; however, direct virus infiltration of the central nervous system is also possible. Timely therapy of myelitis using glucocorticosteroids, plasma exchange and/or intravenous administration of human immunoglobulin can lead to partial or complete regression of neurological disorders. Conclusion. Myelitis is a rare, still serious COVID-19 complication, since is causes severe neurologic impairment and marked physical dysfunctions. Early diagnosis of this condition is vital, since it helps in timely initiation of therapy. Keywords: acute myelitis, coronavirus disease 2019, COVID-19, SARS-CoV-2.

scholarly journals A typical case of syphilitic spinal cord injury

2020 ◽  
Vol VI (3) ◽  
pp. 132-140
Author(s):  
A. Yanishevsky
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Clinical Manifestations ◽  
Typical Case ◽  
The Body ◽  
Single Infection ◽  
Anatomical Changes ◽  
Cord Injury ◽  
The Central Nervous System ◽  
Single Organ

There is not a single poison, not a single infection that would produce such a variety of changes in the body as syphilis. Not a single organ is guaranteed against this terrible scourge of modern humanity. More syphilis does not spare the central nervous system, which, thanks to the modern conditions of life, is a locus mi-noris resistentiae. Damaging this organ, it produces an extremely variegated picture of both pathological and anatomical changes and clinical manifestations and course, depending on the diversity of the nature of the process, very different localization, speed or slowness of development.

scholarly journals Clinical profiles and some associated factors of Japanese encephalitis in Bali

2016 ◽  
Vol 46 (1) ◽  
pp. 13
Author(s):  
I Komang Kari ◽  
Wei Liu ◽  
I Made Kompiang Gautama ◽  
I Ketut Subrata ◽  
Zhi Yi Xu
Keyword(s):  
Aseptic Meningitis ◽  
Japanese Encephalitis ◽  
Associated Factors ◽  
Viral Encephalitis ◽  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Army Hospital ◽  
The Central Nervous System ◽  
Clinical Profiles

Background Japanese Encephalitis (JE) is a mosquito-borne vi-ral disease that can affect the central nervous system and causeseveral complications and death. In Indonesia, particularly in Bali,studies of JE in humans are still very limited.Objective To assess the clinical manifestations and outcome ofJE in Bali and to identify some possible associated factors andmonthly distribution of admission to the hospitals.Methods A cross-sectional study was conducted in 8 district hospi-tals, army hospital, and Sanglah central hospital, as surveillance cen-ters in Bali, from July 2001 through January 2003. Subjects less than12 years of age and residences of Bali province who were suspectedof having acute viral encephalitis, aseptic meningitis, and acute flac-cid paralysis referred from all health facilities were included in thisstudy. The diagnosis of JE was established by detection of virus-spe-cific IgM in CSF and serum, with IgM capture enzyme-linkedimmunosorbent assay (MAC ELISA)Results During the study, 158 subjects with encephalitis were in-cluded; 55 (34.8%) were caused by JE and 103 (65.2%) were causedby non-JE. It showed that pig owning and rice farming were signifi-cantly associated with JE (PR= 3.02, 95% CI 1.29; 7.10; P= 0.009and PR= 2.86, 95% CI 1.30; 6,31, P= 0.008, respectively). Mostsubjects (46.2%) were under 2 years old with mean age of 37.24(SD 32.24) months. Forty-two (26.6%) subjects had nuchal rigidity,and all of them had aseptic meningitis. Denpasar had the highestprevalence of non-JE cases. Bangli and Klungkung had the lowestprevalence of JE and non-JE. The highest prevalence of JE was inGianyar. Peak prevalences of JE were in April and May 2002. Peakprevalences of non-JE were during August-October 2001 and inMarch-April 2002. Four (7.3%) subjects of JE group and 25 (24.3%)subjects of non-JE died. There were 25 (45.5%) out of 55 subjectswho survived with disability. Twenty-four (43.6%) JE subjects and34 (33.0%) non-JE subjects had good outcome.Conclusions Around one third of the subjects were positively di-agnosed as JE. The highest prevalence of JE was found in Gianyar.Peak prevalences of JE are in April and May 2002. Pig owning andrice farming are associated factors. Almost half of JE subjects sur-vived with disability

Central Nerve System Impairment, AMA Guides, Sixth Edition: An Overview

2018 ◽  
Vol 23 (1) ◽  
pp. 10-13
Author(s):  
James B. Talmage ◽  
Jay Blaisdell
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Neurological Impairment ◽  
Sixth Edition ◽  
Central Nerve System ◽  
The Central Nervous System ◽  
The One ◽  
Nerve System ◽  
The Brain

Abstract Injuries that affect the central nervous system (CNS) can be catastrophic because they involve the brain or spinal cord, and determining the underlying clinical cause of impairment is essential in using the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), in part because the AMA Guides addresses neurological impairment in several chapters. Unlike the musculoskeletal chapters, Chapter 13, The Central and Peripheral Nervous System, does not use grades, grade modifiers, and a net adjustment formula; rather the chapter uses an approach that is similar to that in prior editions of the AMA Guides. The following steps can be used to perform a CNS rating: 1) evaluate all four major categories of cerebral impairment, and choose the one that is most severe; 2) rate the single most severe cerebral impairment of the four major categories; 3) rate all other impairments that are due to neurogenic problems; and 4) combine the rating of the single most severe category of cerebral impairment with the ratings of all other impairments. Because some neurological dysfunctions are rated elsewhere in the AMA Guides, Sixth Edition, the evaluator may consult Table 13-1 to verify the appropriate chapter to use.

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