scholarly journals Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

2019 ◽  
Vol 28 (23) ◽  
pp. 3921-3927 ◽  
Author(s):  
Giacomo Bitetto ◽  
Dario Ronchi ◽  
Sara Bonato ◽  
Alessandra Pittaro ◽  
Giacomo Monzio Compagnoni ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Purkinje Cells ◽  
Motor Neurons ◽  
Nuclear Membrane ◽  
Nucleocytoplasmic Transport ◽  
Neurological Involvement ◽  
Nuclear Pore ◽  
Striatal Neurons ◽  
Allgrove Syndrome

Abstract Allgrove syndrome (AS) is a rare disease with broad neurological involvement. Neurodegeneration can affect spinal motor neurons, Purkinje cells, striatal neurons and the autonomic system. The mechanisms that lead to neuronal loss are still unclear. Recessive mutations in the AAAS gene affect the encoded protein Aladin, which would normally localize to the cytoplasmic face of the nuclear membrane as part of the nuclear pore complex (NPC). While the NPC is known to be a key factor for nucleocytoplasmic transport, the precise role of Aladin has not been elucidated yet. Here, we explored the consequences of the homozygous AAAS mutation c.464G>A (p.R155H) in central nervous system tissues and fibroblasts of a novel AS patient presenting motor neuron disease, cerebellar ataxia and autonomic dysfunction. Neuropathological analyses showed severe loss of motor neurons and Purkinje cells, with significant reduction in the perinuclear expression of Aladin. A reduced amount of protein was detected in the nuclear membrane fraction of the patient’s brain. RNA analysis revealed a significant reduction of the transcript AAAS-1, while the AAAS-2 transcript was upregulated in fibroblasts. To our knowledge, this is the first study to demonstrate the effects of AAAS mutations in the human central nervous system.

The Golgi Material of the Neurones of the Central Nervous System of Sheep Infected with Louping-Ill

1947 ◽  
Vol s3-88 (1) ◽  
pp. 55-63
Author(s):  
R. A. R. GRESSON ◽  
I. ZLOTNIK
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Purkinje Cells ◽  
Medulla Oblongata ◽  
Motor Nerve ◽  
Pyramidal Cells ◽  
Cell Processes ◽  
The Central Nervous System ◽  
Louping Ill

1. The Golgi material of the pyramidal cells of the cerebral cortex, the Purkinje cells of the cerebellum, and the multipolar cells of the medulla oblongata and ventral horns of the spinal cord of the sheep is present as filaments and as irregularly shaped bodies. In some of the cells, particularly in the lamb (Sheep V), the Golgi material has the appearance of a network. As it is frequently present as separate bodies it is suggested that it may always consist of discrete Golgi elements which are sometimes situated in close proximity or in contact with one another. Filamentous Golgi elements are present in the basal part of the cell processes. 2. An examination of neurones from the corresponding regions of the central nervous system of sheep infected experimentally with louping-ill showed that the Golgi material undergoes changes consequent upon the invasion of the cells by the virus. The Golgi material undergoes hypertrophy, and at the same time there is a reduction in the number of filamentous Golgi elements and a reduction in the amount of Golgi substance present in the cell processes. These changes are followed by fragmentation. All the neurones of a particular region are not affected equally at the same time. The Golgi material of the Purkinje cells tends to form groups in the cytoplasm prior to fragmentation. In the multipolar cells of the medulla oblongata the hypertrophy of the Golgi material is not as great as in the other regions of the central nervous system. The Golgi material of the motor nerve-cells of the ventral horns of the spinal cord undergoes considerable hypertrophy which is followed by a grouping of the Golgi elements and fragmentation.

scholarly journals Genotypical diversity of HIV clades and central nervous system impairment

2011 ◽  
Vol 69 (6) ◽  
pp. 964-972 ◽  
Author(s):  
Indianara Rotta ◽  
Sérgio Monteiro de Almeida
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hiv Infection ◽  
Opportunistic Infections ◽  
Regulatory Protein ◽  
Viral Meningitis ◽  
Neurological Involvement ◽  
Subtype C ◽  
Vacuolar Myelopathy ◽  
The Central Nervous System

The central nervous system (CNS) and the immune system are considered major target organs for HIV infection. The neurological manifestations directly related to HIV are acute viral meningitis, chronic meningitis, HIV associated dementia, vacuolar myelopathy and involvement of the peripheral nervous system. Changes in diagnosis and clinical management have changed the aspect of HIV infection so that it is no longer a fatal disease, and has become a chronic disease requiring sustained medical management. After HAART the incidence of most opportunistic infections, including those affecting the CNS, has dropped markedly. Some studies suggest that neurological involvement of infected patient occur with different frequency, depending on HIV subtype involved in the infection. Subtype C may have reduced neuroinvasive capacity, possibly due to its different primary conformation of HIV transactivating regulatory protein (Tat), involved in monocyte chemotaxis. This review focus on physiopathologic aspects of HIV infection in CNS and its correlation with HIV clades.

Dopamine modulation of gill reflex behavior in Aplysia

1979 ◽  
Vol 57 (3) ◽  
pp. 329-332 ◽  
Author(s):  
Peter Ruben ◽  
Ken Lukowiak
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Motor Neuron ◽  
Peripheral Nervous System ◽  
Motor Neurons ◽  
Withdrawal Reflex ◽  
Dopaminergic Pathway ◽  
The Central Nervous System ◽  
Dopamine Modulation

We have studied the effects of dopamine on the gill withdrawal reflex evoked by tactile siphon stimulation in the margine mollusc Aplysia. Physiological concentrations of dopamine (diluted in seawater) were perfused through the gill during siphon stimulation series. The amplitude of the reflex was potentiated by dopamine and habituation of the reflex was prevented. This occurred with no change in the activity evoked in central motor neurons. These results lead us to conclude that the dopaminergic motor neuron L9 is modulating habituation in the periphery and that the central nervous system facilitatory control of the peripheral nervous system may act via a dopaminergic pathway.

scholarly journals A case of childhood Brucellosis with neurological involvement and epididymo-orchitis

2014 ◽  
Vol 8 (12) ◽  
pp. 1636-1638 ◽  
Author(s):  
Saliha Kanik-Yuksek ◽  
Belgin Gulhan ◽  
Aslinur Ozkaya-Parlakay ◽  
Hasan Tezer
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Presentation ◽  
Central Nervous System Involvement ◽  
Common Type ◽  
Neurological Involvement ◽  
Brucella Species ◽  
Zoonotic Infection ◽  
Genitourinary System ◽  
Tract Involvement

Brucellosis is a common zoonotic infection worldwide caused by Brucella species. Central nervous system involvement is a serious complication of brucellosis, and the clinical presentation is quite heterogeneous. The genitourinary system may be affected. Epididymo-orchitis is the most common type of urinary tract involvement, which can cause serious complications. Herein, we present a case of brucellosis in a child with a rare combination of epididymo-orchitis and neurobrucellosis not encountered previously in the literature.

The Pathology of Gomen Disease: A Cerebellar Disorder of Horses in New Caledonia

1982 ◽  
Vol 19 (4) ◽  
pp. 399-405 ◽  
Author(s):  
W. J. Hartley ◽  
T. Kuberski ◽  
G. LeGonidec ◽  
P. Daynes
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Purkinje Cells ◽  
New Caledonia ◽  
Cerebellar Disorder ◽  
Lipofuscin Pigment ◽  
The Central Nervous System

The lesions of Gomen disease consist of widespread loss of Purkinje cells with extensive deposition of lipofuscin pigment in neurones in most areas of the central nervous system. We suggest these two disease processes are related and the entity may be an acquired environmental neuronal lipofuscinosis.

scholarly journals Neurological Involvement in Primary Sjögren Syndrome: A Focus on Central Nervous System

PLoS ONE ◽  
2014 ◽  
Vol 9 (1) ◽  
pp. e84605 ◽  
Author(s):  
Manuela Morreale ◽  
Pasquale Marchione ◽  
Patrizia Giacomini ◽  
Simona Pontecorvo ◽  
Massimo Marianetti ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Sjögren Syndrome ◽  
Neurological Involvement ◽  
Sjogren Syndrome ◽  
Primary Sjögren Syndrome

Reticulon-like REEP4 at the inner nuclear membrane promotes nuclear pore complex formation

2021 ◽  
Vol 221 (2) ◽  
Author(s):  
Banafsheh Golchoubian ◽  
Andreas Brunner ◽  
Helena Bragulat-Teixidor ◽  
Annett Neuner ◽  
Busra A. Akarlar ◽  
...  
Keyword(s):  
Nuclear Envelope ◽  
Nuclear Pore Complex ◽  
Nuclear Membrane ◽  
Nucleocytoplasmic Transport ◽  
Nuclear Pore ◽  
Nuclear Pore Complexes ◽  
Inner Nuclear Membrane ◽  
Pore Complexes ◽  
Late Stages ◽  
Protein Complex Assembly

Nuclear pore complexes (NPCs) are channels within the nuclear envelope that mediate nucleocytoplasmic transport. NPCs form within the closed nuclear envelope during interphase or assemble concomitantly with nuclear envelope reformation in late stages of mitosis. Both interphase and mitotic NPC biogenesis require coordination of protein complex assembly and membrane deformation. During early stages of mitotic NPC assembly, a seed for new NPCs is established on chromatin, yet the factors connecting the NPC seed to the membrane of the forming nuclear envelope are unknown. Here, we report that the reticulon homology domain protein REEP4 not only localizes to high-curvature membrane of the cytoplasmic endoplasmic reticulum but is also recruited to the inner nuclear membrane by the NPC biogenesis factor ELYS. This ELYS-recruited pool of REEP4 promotes NPC assembly and appears to be particularly important for NPC formation during mitosis. These findings suggest a role for REEP4 in coordinating nuclear envelope reformation with mitotic NPC biogenesis.

Mini-review on SARS-CoV-2 infection and neurological manifestations: A Perspective

2021 ◽  
Vol 20 ◽  
Author(s):  
Vishal Chavda ◽  
Arif Tasleem Jan ◽  
Dhananjay Yadav
Keyword(s):  
Skeletal Muscle ◽  
Central Nervous System ◽  
Nervous System ◽  
Hepatitis Virus ◽  
Artificial Respiration ◽  
The Body ◽  
Neurological Involvement ◽  
Respiratory Dysfunction ◽  
Chronic Encephalitis ◽  
The Brain

: The Coronavirus, also known as SARS-CoV-2 (Severe Acute Respiratory Syndrome Corona Virus-19), due to its depth impact on acute respiratory dysfunction and mortality, has thrown the world into chaos with its splendid rate of transmission. Recent research findings suggest that the loss of involuntary breathing control in the brainstem, which leads to death, is a clear indicator of neurological involvement.The nose to brain entry is the promising gateway of SARS-CoV-2 to reach the brain via systemic circulatory distribution subsequent infection of the lung. The loss of involuntary control of breathing is a result of an active gateway of systemic blood circulation through the lungs into the brain. Early neurological symptoms like loss of smell, convulsions, and ataxia are the clues of neurological involvement and central nervous system entry of SARS-CoV-2 that further become fatal, life-threatening and require artificial respiration and emergency admissions. As per studies investigated on Wuhan hospitalized patients of SARS-CoV-2, the involvement of SARS-CoV-2 in the central nervous system (CNS) has three major gateways: Direct involvement into CNS includes headache, ataxia, dizziness, altered or impaired consciousness, acute stroke or seizures; peripheral involvement includes impaired taste, smell, vision and altered nociception; and skeletal muscle impairment like skeletal muscle disorders, acute paralysis in a particular area of the body. In the previous era, most studied and researched viruses were beta coronavirus and mouse hepatitis virus, which were studied for acute and chronic encephalitis and multiple sclerosis (MS). Although the early symptoms of SARS-CoV are respiratory pathogenesis, the differential diagnosis should always be considered for neurological perspective to stop mortalities.

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