Central nervous system malformations in oral-facial-digital syndrome, type 1

2005 ◽  
Vol 136A (2) ◽  
pp. 218-218 ◽  
Author(s):  
Margareta Holub ◽  
Lorraine Potocki ◽  
Olaf A. Bodamer
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Syndrome Type

scholarly journals Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1831
Author(s):  
Camilla Russo ◽  
Carmela Russo ◽  
Daniele Cascone ◽  
Federica Mazio ◽  
Claudia Santoro ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Structural Organization ◽  
Neurofibromatosis Type ◽  
Review Article ◽  
Tumor Suppressor Protein ◽  
Clinical Implications ◽  
Nf1 Gene ◽  
The Central Nervous System

Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.

scholarly journals Human Immunodeficiency Virus Type 1 RNA Detected in the Central Nervous System (CNS) After Years of Suppressive Antiretroviral Therapy Can Originate from a Replicating CNS Reservoir or Clonally Expanded Cells

2018 ◽  
Vol 69 (8) ◽  
pp. 1345-1352 ◽  
Author(s):  
Sarah B Joseph ◽  
Laura P Kincer ◽  
Natalie M Bowman ◽  
Chris Evans ◽  
Michael J Vinikoor ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Human Immunodeficiency Virus ◽  
Nervous System ◽  
Antiretroviral Therapy ◽  
Human Immunodeficiency Virus Type ◽  
Virus Type ◽  
Immunodeficiency Virus ◽  
Hiv 1 ◽  
Csf Escape

Abstract Background Human immunodeficiency virus type 1 (HIV-1) populations are detected in cerebrospinal fluid (CSF) of some people on suppressive antiretroviral therapy (ART). Detailed analysis of these populations may reveal whether they are produced by central nervous system (CNS) reservoirs. Methods We performed a study of 101 asymptomatic participants on stable ART. HIV-1 RNA concentrations were cross-sectionally measured in CSF and plasma. In participants with CSF HIV-1 RNA concentrations sufficient for analysis, viral populations were genetically and phenotypically characterized over multiple time points. Results For 6% of participants (6 of 101), the concentration of HIV-1 RNA in their CSF was ≥0.5 log copies/mL above that of plasma (ie, CSF escape). We generated viral envelope sequences from CSF of 3 participants. One had a persistent CSF escape population that was macrophage-tropic, partially drug resistant, genetically diverse, and closely related to a minor macrophage-tropic lineage present in the blood prior to viral suppression and enriched for after ART. Two participants (1 suppressed and 1 not) had transient CSF escape populations that were R5 T cell-tropic with little genetic diversity. Conclusions Extensive analysis of viral populations in 1 participant revealed that CSF escape was from a persistently replicating population, likely in macrophages/microglia, present in the CNS over 3 years of ART. CSF escape in 2 other participants was likely produced by trafficking and transient expansion of infected T cells in the CNS. Our results show that CNS reservoirs can persist during ART and that CSF escape is not exclusively produced by replicating CNS reservoirs.

scholarly journals Elevated expression of membrane type 1 metalloproteinase (MT1-MMP) in reactive astrocytes following neurodegeneration in mouse central nervous system

FEBS Letters ◽  
2000 ◽  
Vol 481 (3) ◽  
pp. 227-234 ◽  
Author(s):  
Silvia Rathke-Hartlieb ◽  
Petra Budde ◽  
Stefan Ewert ◽  
Uwe Schlomann ◽  
Martin Sebastian Staege ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Reactive Astrocytes ◽  
Elevated Expression ◽  
Membrane Type ◽  
Mouse Central Nervous System

Central Nervous System Diseases Due to Slow Viruses and Prions

2015 ◽  
Author(s):  
Francisco González-Scarano
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Measles Virus ◽  
Nervous System Diseases ◽  
Central Nervous System Diseases ◽  
Virus Infections ◽  
Human T Cell ◽  
Slow Virus ◽  
Jakob Disease

Several central nervous system diseases whose common elements include a long incubation period and a progressive clinical course were once called slow virus infections, because most of them are in fact caused by viruses. However, one group of these CNS diseases is now believed to be caused by abnormally configured proteins known as prions; rather than an etiologic designation, therefore, on the whole these diseases are better characterized by their chronicity, their transmissibility, and at this point, their inexorably deteriorating natural history. This chapter reviews the more common of these: HIV-associated dementia (HAD or HIVD), human T cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy, Creutzfeldt-Jakob disease (CJD), progressive multifocal leukoencephalopathy (PML), and subacute sclerosing encephalitis (SSPE), which is associated with a variant of measles virus. Figures illustrate the pathogenesis and the pathology of HIV dementia, propagation of scrapie prion protein (PrP) in brain neurons, and spongiform brain changes of CJD. Tables list the stages of HAD and the clinical and pathologic characteristics distinguishing classic CJD and varient CJD. This module contains ­5 highly rendered figures, 2 tables, 57 references, and 5 MCQs. 

scholarly journals An Update on Neurofibromatosis Type 1-Associated Gliomas

Cancers ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 114 ◽  
Author(s):  
Lobbous ◽  
Bernstock ◽  
Coffee ◽  
Friedman ◽  
Metrock ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Central Nervous System Neoplasms ◽  
Therapeutic Landscape ◽  
Nervous System Neoplasms ◽  
Collaborative Efforts

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss the spectrum of intracranial gliomas arising in individuals with NF1 with a focus on recent preclinical and clinical data. In this review, possible mechanisms of gliomagenesis are discussed, including the contribution of different signaling pathways and tumor microenvironment. Furthermore, we discuss the recent notable advances in the developing therapeutic landscape for NF1-associated gliomas including clinical trials and collaborative efforts.

scholarly journals Spinal cord stimulation for complex regional pain syndrome type 1 with dystonia: a case report and discussion of the literature

F1000Research ◽  
2014 ◽  
Vol 3 ◽  
pp. 97 ◽  
Author(s):  
Caroline Voet ◽  
Bernard le Polain de Waroux ◽  
Patrice Forget ◽  
Ronald Deumens ◽  
Etienne Masquelier
Keyword(s):  
Spinal Cord ◽  
Nervous System ◽  
Case Report ◽  
Complex Regional Pain Syndrome ◽  
Spinal Cord Stimulation ◽  
Behavioural Change ◽  
Pain Syndrome ◽  
Social Model ◽  
Syndrome Type

Background: Complex Regional Pain Syndrome type 1 (CRPS-1) is a debilitating chronic pain disorder, the physiopathology of which can lead to dystonia associated with changes in the autonomic, central and peripheral nervous system. An interdisciplinary approach (pharmacological, interventional and psychological therapies in conjunction with a rehabilitation pathway) is central to progress towards pain reduction and restoration of function.Aim: This case report aims to stimulate reflection and development of mechanism-based therapeutic strategies concerning CRPS associated with dystonia.Case description: A 31 year old female CRPS-1 patient presented with dystonia of the right foot following ligamentoplasty for chronic ankle instability. She did not have a satisfactory response to the usual therapies. Multiple anesthetic blocks (popliteal, epidural and intrathecal) were not associated with significant anesthesia and analgesia. Mobilization of the foot by a physiotherapist was not possible. A multidisciplinary approach with psychological support, physiotherapy and spinal cord stimulation (SCS) brought pain relief, rehabilitation and improvement in the quality of life.Conclusion: The present case report demonstrates the occurrence of multilevel (peripheral and central) pathological modifications in the nervous system of a CRPS-1 patient with dystonia. This conclusion is based on the patient’s pain being resistant to anesthetic blocks at different levels and the favourable, at least initially, response to SCS. The importance of the bio-psycho-social model is also suggested, permitting behavioural change.

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