scholarly journals FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

2019 ◽  
Vol 20 (17) ◽  
pp. 4176 ◽  
Author(s):  
Lee-Chin Wong ◽  
Shekhar Singh ◽  
Hsin-Pei Wang ◽  
Chia-Jui Hsu ◽  
Su-Ching Hu ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Neural Plasticity ◽  
Brain Magnetic Resonance Imaging ◽  
Cortical Layer ◽  
Normal Brain ◽  
Cerebral Malformation ◽  
Forkhead Box ◽  
Mature Neurons ◽  
The Brain

Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinical features include microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation. In contrast, children with duplications of FOXG1 are typically normocephalic and have normal brain magnetic resonance imaging. They also have different clinical characteristics in terms of epilepsy, movement disorders, and neurodevelopment compared with children with deletions or intragenic mutations. FOXG1 is a transcriptional factor. It is expressed mainly in the telencephalon and plays a pleiotropic role in the development of the brain. It is a key player in development and territorial specification of the anterior brain. In addition, it maintains the expansion of the neural proliferating pool, and also regulates the pace of neocortical neuronogenic progression. It also facilitates cortical layer and corpus callosum formation. Furthermore, it promotes dendrite elongation and maintains neural plasticity, including dendritic arborization and spine densities in mature neurons. In this review, we summarize the clinical features, molecular genetics, and possible pathogenesis of FOXG1-related syndrome.

Metallic prions

2004 ◽  
Vol 71 ◽  
pp. 193-202 ◽  
Author(s):  
David R Brown
Keyword(s):  
Prion Protein ◽  
Binding Capacity ◽  
Normal Function ◽  
Transmissible Spongiform Encephalopathies ◽  
Published Data ◽  
Normal Brain ◽  
Copper Binding ◽  
Loss Of Function ◽  
Spongiform Encephalopathies ◽  
The Brain

Prion diseases, also referred to as transmissible spongiform encephalopathies, are characterized by the deposition of an abnormal isoform of the prion protein in the brain. However, this aggregated, fibrillar, amyloid protein, termed PrPSc, is an altered conformer of a normal brain glycoprotein, PrPc. Understanding the nature of the normal cellular isoform of the prion protein is considered essential to understanding the conversion process that generates PrPSc. To this end much work has focused on elucidation of the normal function and activity of PrPc. Substantial evidence supports the notion that PrPc is a copper-binding protein. In conversion to the abnormal isoform, this Cu-binding activity is lost. Instead, there are some suggestions that the protein might bind other metals such as Mn or Zn. PrPc functions currently under investigation include the possibility that the protein is involved in signal transduction, cell adhesion, Cu transport and resistance to oxidative stress. Of these possibilities, only a role in Cu transport and its action as an antioxidant take into consideration PrPc's Cu-binding capacity. There are also more published data supporting these two functions. There is strong evidence that during the course of prion disease, there is a loss of function of the prion protein. This manifests as a change in metal balance in the brain and other organs and substantial oxidative damage throughout the brain. Thus prions and metals have become tightly linked in the quest to understand the nature of transmissible spongiform encephalopathies.

A Survey on Detection and Classification of Brain Tumor Using Image Processing Techniques

2020 ◽  
pp. 967-973
Author(s):  
V. Deepika ◽  
T. Rajasenbagam
Keyword(s):  
Image Processing ◽  
Brain Tumor ◽  
Soft Tissues ◽  
Tumor Detection ◽  
Tumor Classification ◽  
Normal Brain ◽  
Image Processing Techniques ◽  
Normal Brain Function ◽  
Processing Techniques ◽  
The Brain

A brain tumor is an uncontrolled growth of abnormal brain tissue that can interfere with normal brain function. Although various methods have been developed for brain tumor classification, tumor detection and multiclass classification remain challenging due to the complex characteristics of the brain tumor. Brain tumor detection and classification are one of the most challenging and time-consuming tasks in the processing of medical images. MRI (Magnetic Resonance Imaging) is a visual imaging technique, which provides a information about the soft tissues of the human body, which helps identify the brain tumor. Proper diagnosis can prevent a patient's health to some extent. This paper presents a review of various detection and classification methods for brain tumor classification using image processing techniques.

scholarly journals FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Reymundo Lozano ◽  
Catherine Gbekie ◽  
Paige M. Siper ◽  
Shubhika Srivastava ◽  
Jeffrey M. Saland ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Medical Assessment ◽  
Forkhead Box ◽  
Organ Systems ◽  
Practice Parameters ◽  
Assessment And Monitoring ◽  
Multidisciplinary Group ◽  
The Brain

AbstractFOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome.

The role of GABAA receptor biogenesis, structure and function in epilepsy

2006 ◽  
Vol 34 (5) ◽  
pp. 863-867 ◽  
Author(s):  
S. Mizielinska ◽  
S. Greenwood ◽  
C.N. Connolly
Keyword(s):  
Gabaa Receptor ◽  
Structure And Function ◽  
Inhibitory Synapses ◽  
Normal Brain ◽  
Synaptic Targeting ◽  
Acid Type ◽  
Normal Brain Function ◽  
And Function ◽  
The Brain

Maintaining the correct balance in neuronal activation is of paramount importance to normal brain function. Imbalances due to changes in excitation or inhibition can lead to a variety of disorders ranging from the clinically extreme (e.g. epilepsy) to the more subtle (e.g. anxiety). In the brain, the most common inhibitory synapses are regulated by GABAA (γ-aminobutyric acid type A) receptors, a role commensurate with their importance as therapeutic targets. Remarkably, we still know relatively little about GABAA receptor biogenesis. Receptors are constructed as pentameric ion channels, with α and β subunits being the minimal requirement, and the incorporation of a γ subunit being necessary for benzodiazepine modulation and synaptic targeting. Insights have been provided by the discovery of several specific assembly signals within different GABAA receptor subunits. Moreover, a number of recent studies on GABAA receptor mutations associated with epilepsy have further enhanced our understanding of GABAA receptor biogenesis, structure and function.

Clinical features and molecular genetics of hereditary peripheral neuropathies

2002 ◽  
Vol 249 (12) ◽  
pp. 1629-1650 ◽  
Author(s):  
Gregor Kuhlenb�umer ◽  
Peter Young ◽  
Gert H�nermund ◽  
Bernd Ringelstein ◽  
Florian St�gbauer
Keyword(s):  
Molecular Genetics ◽  
Clinical Features ◽  
Peripheral Neuropathies

scholarly journals Progeroid Syndrome of De Barsy With Hypocalcemic Seizures

2012 ◽  
Vol 32 (2) ◽  
pp. 175-177
Author(s):  
J Cheriathu ◽  
IE D'souza ◽  
LJ John ◽  
R El Bahtimi
Keyword(s):  
Clinical Features ◽  
United Arab Emirates ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Cutis Laxa ◽  
Cerebral Malformation ◽  
Malformation Syndrome ◽  
Intrauterine Growth ◽  
Corneal Clouding ◽  
First Case

De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures. J Nepal Paediatr Soc 2012;32(2):175-177 doi: http://dx.doi.org/10.3126/jnps.v32i2.5993

Cocaine Dependence Produce Psychiatric Symptoms - a Case Report

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
M. Stankovic ◽  
S. Vucetic-Arsic ◽  
S. Alcaz ◽  
J. Cvejic
Keyword(s):  
Clinical Features ◽  
Male Patient ◽  
Psychiatric Symptoms ◽  
Cocaine Dependence ◽  
Psychotic Symptoms ◽  
Personal Contact ◽  
Outpatient Unit ◽  
Special Hospital ◽  
First Time ◽  
The Brain

Aim:We want to present a polymorphic clinical features like: hallutinations, paranoid ideas, agitation and violence as a result of prolonged cocaine intranasal consumption.Methods:We exposed a 30-year old male patient with ICD-X diagnostic criteria for cocaine dependence (intranasal consumption) that treated in the outpatient unit of Special Hospital of Addicitons, Belgrade, Serbia from April to July 2008. We used the medical records, psychical examination, psychiatric interwievs, standard blood sampling and cocaine urine detections sample (positive).Results:Observations a specific and polymorphic clinical features with presence of psychotic symptoms after cocaine consumptions in our male patient, for the first time after 5 years of cocaine dependence: auditory hallucinations (two- voice speakers), paranoid persecution ideas and suspiciousness, agitation with appearance of vegetative symptomatology (palpitations, sweating, pupil dilatation), extremely violence behavior to other people, complete social reductions (“armed to the outside world”, refused any personal contact and isolated from friends and family, permanent outdoor checking). There was an intensive fear too and impaired judgment.Conclusions:Permanent cocaine consumption can result with produce a numerous of psychiatric symptoms and syndromes as our experience does. It is similar to the findings of other studies and papers reviewed. It is suppose that cocaine has numerous effects on important neurotransmitters in the brain, such as increase as well as the release of dopamine and it related with aggressiveness, hallucinations and other psychiatric symptoms.

Perivascular (Virchow–Robin) spaces

2021 ◽  
pp. 86-89
Keyword(s):  
Blood Vessels ◽  
Shape Change ◽  
Lymphatic Drainage ◽  
Brain Regions ◽  
Mechanical Trauma ◽  
Normal Brain ◽  
Perivascular Spaces ◽  
Mr Images ◽  
Lenticulostriate Artery ◽  
The Brain

Perivascular spaces; also known as the Virchow-Robin Spaces, they are pleurally lined, interstitial fluid-filled areas that surround certain blood vessels in various organs, especially the perforating arteries in the brain, with an immunological function. Dilated perivascular spaces are divided into three types. The first of these is on the lenticulostriate artery, the second is in the cortex following the path of the medullary artery, and the third is in the midbrain. Perivascular spaces can be detected as areas of dilatation on MR images. Although a limited number of perivascular spaces can be seen in a normal brain, the increase in the number of these spaces has been associated with the incidence of various neurodegenerative diseases. Different theories have been suggested about the tendency of the perivascular spaces to expand. Current theories include mechanical trauma due to cerebrospinal fluid pulsing, elongation of penetrating blood vessels, unusual vascular permeability, and increased fluid exudation. In addition, the brain tissue atrophy that occurs with aging; It is thought to contribute to the widening of perivascular spaces by causing shrinkage of arteries, altered arterial wall permeability, obstruction of lymphatic drainage pathways and vascular demyelination. It is assumed that the clinical significance of the dilation tendencies of the perivascular spaces is based on shape change rather than size. These spaces have been mostly observed in brain regions such as corpus callosum, cingulate gyrus, dentate nucleus, substantia nigra and various arterial basins including lenticulostriate artery and mesencephalothalamic artery. In conclusion, when sections are taken on MR imaging, it is possible that perivascular spaces may be confused with microvascular diseases and some neurodegenerative changes. In addition, perivascular spaces can be seen without pathological significance. Therefore, it would be appropriate to investigate the etiological relationship by evaluating the radiological findings and clinical picture together.

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