Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency

2019 ◽  
Vol 51 (03) ◽  
pp. 206-210
Author(s):  
Ismail Solmaz ◽  
Elif Soyak Aytekin ◽  
Deniz Çağdaş ◽  
Cagman Tan ◽  
Ilhan Tezcan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Inflammatory Diseases ◽  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Neurological Diseases ◽  
Homozygous Mutation ◽  
Recurrent Strokes ◽  
Chronic Hemolysis ◽  
The Central Nervous System ◽  
Autosomal Recessive Condition

AbstractDefects in the regulatory components of the complement system can lead to inflammatory diseases. We present a patient who had four episodes of demyelination in the central nervous system as the only manifestation of inherited CD59 deficiency. Relapsing encephalopathy partially responsive to intravenous immunoglobulin and steroid treatments on the background of parental consanguinity suggested an inherited immune dysregulation. Next generation sequencing revealed homozygous mutation in the CD59 gene, confirmed by lack of CD59 expression on flow cytometry. Inherited CD59 deficiency is a rare autosomal recessive condition characterized by chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy mimicking Guillain–Barré syndrome or chronic inflammatory demyelinating polyneuropathy. Recurrent central nervous system demyelinating episodes as the only manifestation has not been reported to date in inherited CD59 deficiency. This entity should be considered in the differential diagnosis of patients with early-onset recurrent neurological diseases with central or peripheral origin.

scholarly journals The management of patients with neurological diseases during the COVID-19 pandemic

2020 ◽  
Vol 26 (4) ◽  
pp. 447-461
Author(s):  
M. P. Topuzova ◽  
T. M. Alekseeva ◽  
A. D. Chaykovskaya ◽  
I. K. Ternovyh ◽  
P. Sh. Isabekova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Inflammatory Diseases ◽  
Neurological Diseases ◽  
Diagnostic Errors ◽  
Neurological Complications ◽  
Benign Intracranial Hypertension ◽  
Risk Of Infection ◽  
Limited Mobility ◽  
The Central Nervous System

The article discusses the management of patients with various neurological diseases during the COVID-19 pandemic, taking into account the determination of the level of risk of infection. The possibility of increasing the risk of infection in patients with disability, especially with impaired function of the respiratory and bulbar muscles, limited mobility, and the presence of concomitant diseases, is indicated. The recommendations on the treatment of patients with stroke, neuromuscular diseases, inflammatory and autoimmune diseases of the central nervous system, in particular, multiple sclerosis and neuromyelitis optica spectrum disorder (NMOSD), as well as non-inflammatory diseases of the central nervous system (epilepsy, Parkinson’s disease, atypical parkinsonism, dystonia, hereditary spastic paraplegia, infantile cerebral palsy, benign intracranial hypertension) are considered. Interactions of drugs for the treatment of COVID-19 and neurological diseases are given. Potential neurological complications of COVID-19 are overviewed. Potential neurological complications of COVID-19 were noted: anosmia, ageusia, viral meningitis, encephalitis, post-infectious stem encephalitis, acute necrotizing hemorrhagic leukoencephalopathy, Guillain-Barre syndrome, myositis. The importance of the fact that during the COVID-19 pandemic, when examining patients with neurological diseases, clinicians should take into account the possibility of a patient with COVID-19, and also consider it as a differential diagnosis in order to avoid diagnostic errors, prescribe timely treatment and prevent the spread of infection.

scholarly journals Biomarkers in Rare Demyelinating Disease of the Central Nervous System

2020 ◽  
Vol 21 (21) ◽  
pp. 8409
Author(s):  
Marina Boziki ◽  
Styliani-Aggeliki Sintila ◽  
Panagiotis Ioannidis ◽  
Nikolaos Grigoriadis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Demyelinating Disease ◽  
Inflammatory Diseases ◽  
Neurological Diseases ◽  
Acute Disseminated Encephalomyelitis ◽  
Demyelinating Diseases ◽  
Organ Specific ◽  
The Central Nervous System ◽  
Biomarker Research

Rare neurological diseases are a heterogeneous group corresponding approximately to 50% of all rare diseases. Neurologists are among the main specialists involved in their diagnostic investigation. At the moment, a consensus guideline on which neurologists may base clinical suspicion is not available. Moreover, neurologists need guidance with respect to screening investigations that may be performed. In this respect, biomarker research has emerged as a particularly active field due to its potential applications in clinical practice. With respect to autoimmune demyelinating diseases of the Central Nervous System (CNS), although these diseases occur in the frame of organ-specific autoimmunity, pathology of the disease itself is orchestrated among several anatomical and functional compartments. The differential diagnosis is broad and includes, but is not limited to, rare neurological diseases. Multiple Sclerosis (MS) needs to be differentially diagnosed from rare MS variants, Acute Disseminated Encephalomyelitis (ADEM), the range of Neuromyelitis Optica Spectrum Disorders (NMOSDs), Myelin Oligodendrocyte Glycoprotein (MOG) antibody disease and other systemic inflammatory diseases. Diagnostic biomarkers may facilitate timely diagnosis and proper disease management, preventing disease exacerbation due to misdiagnosis and false treatment. In this review, we will describe advances in biomarker research with respect to rare neuroinflammatory disease of the CNS.

Mills' syndrome. A clinical case of a rare degenerative pathology of the central nervous system

2020 ◽  
pp. 57-60
Author(s):  
Konstantin Gulyabin
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurological Diseases ◽  
Cortical Atrophy ◽  
Primary Lateral Sclerosis ◽  
System A ◽  
The Central Nervous System ◽  
Primary Lateral ◽  
Lateral Sclerosis ◽  
Mills Syndrome

Mills' syndrome is a rare neurological disorder. Its nosological nature is currently not completely determined. Nevertheless, Mills' syndrome is considered to be a rare variant of the degenerative pathology of the central nervous system – a variant of focal cortical atrophy. The true prevalence of this pathology is unknown, since this condition is more often of a syndrome type, observed in the clinical picture of a number of neurological diseases (primary lateral sclerosis, frontotemporal dementia, etc.) and is less common in isolated form.

scholarly journals Vesicular dysfunction and pathways to neurodegeneration

2021 ◽  
Author(s):  
Patrick A. Lewis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Human Brain ◽  
Cell Viability ◽  
Case Studies ◽  
Neurological Diseases ◽  
The Past ◽  
Cellular Events ◽  
The Central Nervous System ◽  
Cellular Control

Abstract Cellular control of vesicle biology and trafficking is critical for cell viability, with disruption of these pathways within the cells of the central nervous system resulting in neurodegeneration and disease. The past two decades have provided important insights into both the genetic and biological links between vesicle trafficking and neurodegeneration. In this essay, the pathways that have emerged as being critical for neuronal survival in the human brain will be discussed – illustrating the diversity of proteins and cellular events with three molecular case studies drawn from different neurological diseases.

scholarly journals Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders

2021 ◽  
Vol 13 ◽  
Author(s):  
Banglian Hu ◽  
Shengshun Duan ◽  
Ziwei Wang ◽  
Xin Li ◽  
Yuhang Zhou ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurological Disorders ◽  
Neurological Diseases ◽  
Colony Stimulating Factor ◽  
Loss Of Function ◽  
Axonal Spheroids ◽  
The Central Nervous System ◽  
Stimulating Factor

The colony-stimulating factor 1 receptor (CSF1R) is a key tyrosine kinase transmembrane receptor modulating microglial homeostasis, neurogenesis, and neuronal survival in the central nervous system (CNS). CSF1R, which can be proteolytically cleaved into a soluble ectodomain and an intracellular protein fragment, supports the survival of myeloid cells upon activation by two ligands, colony stimulating factor 1 and interleukin 34. CSF1R loss-of-function mutations are the major cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and its dysfunction has also been implicated in other neurodegenerative disorders including Alzheimer’s disease (AD). Here, we review the physiological functions of CSF1R in the CNS and its pathological effects in neurological disorders including ALSP, AD, frontotemporal dementia and multiple sclerosis. Understanding the pathophysiology of CSF1R is critical for developing targeted therapies for related neurological diseases.

scholarly journals Progress in Research on SARS-CoV-2 Infection Causing Neurological Diseases and Its Infection Mechanism

2021 ◽  
Vol 11 ◽  
Author(s):  
Lintao Wang ◽  
Zhiguang Ren ◽  
Li Ma ◽  
Yanjie Han ◽  
Wenqiang Wei ◽  
...  
Keyword(s):  
Public Health ◽  
Central Nervous System ◽  
Nervous System ◽  
Neurological Diseases ◽  
Public Health Problem ◽  
Neurological Complications ◽  
Major Public Health Problem ◽  
The Central Nervous System ◽  
The Impact ◽  
Great Harm

COVID-19 has spread rapidly worldwide since its outbreak and has now become a major public health problem. More and more evidence indicates that SARS-CoV-2 may not only affect the respiratory system but also cause great harm to the central nervous system. Therefore, it is extremely important to explore in-depth the impact of SARS-CoV-2 infection on the nervous system. In this paper, the possible mechanisms of SARS-CoV-2 invading the central nervous system during COVID-19, and the neurological complications caused by SARS-CoV-2 infection were reviewed.

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