scholarly journals The Role of Genetics Mutations in GALC in Krabbe Syndrome

2019 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Autosomal Recessive ◽  
Neurological Dysfunction ◽  
Pseudobulbar Palsy ◽  
Recessive Trait ◽  
Recessive Genes ◽  
Lipid Storage Disorder ◽  
The Brain ◽  
Beta Galactosidase ◽  
Globoid Cells

Krabbe’s Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine. Failure to break down these sphingolipids results in degeneration of the myelin sheath surrounding nerves in the brain (demyelination). Characteristic globoid cells appear in affected areas of the brain. This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and paralysis of certain facial muscles (pseudobulbar palsy). Krabbe’s Leukodystrophy is inherited as an autosomal recessive trait. Krabbe’s Leukodystrophy is a hereditary disorder transferred to offspring through recessive genes. It is caused by a deficiency of the enzyme galactoside beta-galactosidase (galactosyl ceramidase). This enzyme is needed for the metabolism of galactocerebroside (galactosyl ceramide), a component of the fatty sheath around the nerves (myelin). The demyelination of the nerve cells in the large hemispheres of the brain (and in the brain stem) causes the neurological symptoms of Krabbe’s Leukodystrophy

scholarly journals Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis

2015 ◽  
Vol 22 (2) ◽  
pp. 53-57
Author(s):  
Ahmed H. Abduljabbar
Keyword(s):  
Brain Imaging ◽  
Autosomal Recessive ◽  
Joubert Syndrome ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Resonance Imaging ◽  
Truncal Ataxia ◽  
Bat Wing ◽  
The Brain ◽  
4Th Ventricle

Joubert syndrome is a rare disorder inherited as an autosomal recessive trait. It has distinctive clinical features and specific brain imaging fi ndings on magnetic resonance imaging. Patients present clinically with hyperpnea, apnea, ocular abnormalities, developmental delay and truncal ataxia. In this case report, we illustrate a patient with Joubert syndrome and chronic renal failure. Magmetic resonance imaging examination revealed the characteristic "molar tooth" appearance of the brain stem, "bat-wing" shaped 4th ventricle, cleft vermis and deep interpeduncular fossa consistent with the diagnosis.  

Cerebral arteriovenous malformations

1984 ◽  
Vol 60 (1) ◽  
pp. 14-22 ◽  
Author(s):  
Alfred J. Luessenhop ◽  
Louis Rosa
Keyword(s):  
Arteriovenous Malformations ◽  
Neurological Dysfunction ◽  
Cerebral Arteriovenous Malformations ◽  
Natural Risk ◽  
Surgical Risk ◽  
Content Type ◽  
Mortality And Morbidity ◽  
The Brain ◽  
Fine Print

✓ To address the problems of surgical risk versus natural risk associated with cerebral arteriovenous malformations (AVM's), and the role of the intravascular operative approach, the authors have assessed a 20-year experience with 450 patients. Results of direct surgery in 90 patients indicate that for the smaller AVM's (Grades I and II), mortality and morbidity rates are lower than a reasonably projected natural risk. Hence, these patients are candidates for surgery in most instances. However, for more extensive AVM's (Grades III and IV), consideration of anticipated future years of exposure to natural risk and the location of the AVM in the brain are necessary for determining operability. In general, neither seizures nor incipient focal neurological dysfunction alone are indications for surgery, and the risks of disability or death from hemorrhage after the fifth decade of life are probably less than the surgical risks by present operative techniques. Considering the usual age of patients at the time of diagnosis, it is estimated that surgical risk is currently less than the natural risk for about 65% to 70% of all AVM patients. The categories of AVM's in which the angiographic effectiveness of the intravascular approach is the greatest correspond to the same categories of AVM's that can be surgically removed with low risk. The intravascular approach is most useful for management of large AVM's causing progressive neurological dysfunction or as a preliminary step to surgery in selected cases in which access to major feeding arteries is difficult. The authors believe that the future of the intravascular approach should be directed toward transforming large inoperable AVM's into operable ones, but that the overall capability for this with acceptable risk is uncertain at present.

How Wnt Signaling Builds the Brain: Bridging Development and Disease

2016 ◽  
Vol 23 (3) ◽  
pp. 314-329 ◽  
Author(s):  
Rivka Noelanders ◽  
Kris Vleminckx
Keyword(s):  
Wnt Signaling ◽  
Neural Development ◽  
Neurological Disorders ◽  
Neural Differentiation ◽  
Neurological Diseases ◽  
Physiological Role ◽  
Adult Brain ◽  
Neurological Dysfunction ◽  
The Brain

Wnt/β-catenin signaling plays a crucial role throughout all stages of brain development and remains important in the adult brain. Accordingly, many neurological disorders have been linked to Wnt signaling. Defects in Wnt signaling during neural development can give rise to birth defects or lead to neurological dysfunction later in life. Developmental signaling events can also be hijacked in the adult and result in disease. Moreover, knowledge about the physiological role of Wnt signaling in the brain might lead to new therapeutic strategies for neurological diseases. Especially, the important role for Wnt signaling in neural differentiation of pluripotent stem cells has received much attention as this might provide a cure for neurodegenerative disorders. In this review, we summarize the versatile role of Wnt/β-catenin signaling during neural development and discuss some recent studies linking Wnt signaling to neurological disorders.

The Role of Mitochondria in the Genesis of Neuroaxonal Dystrophy in the Brains of Aging Mice

1975 ◽  
Vol 33 ◽  
pp. 372-373
Author(s):  
J.E. Johnson
Keyword(s):  
Electron Microscopy ◽  
Present Report ◽  
Light And Electron Microscopy ◽  
Dorsal Column ◽  
Neuroaxonal Dystrophy ◽  
Nucleus Gracilis ◽  
Dystrophic Axons ◽  
The Brain ◽  
Nucleus Cuneatus

Although neuroaxonal dystrophy (NAD) has been examined by light and electron microscopy for years, the nature of the components in the dystrophic axons is not well understood. The present report examines nucleus gracilis and cuneatus (the dorsal column nuclei) in the brain stem of aging mice.Mice (C57BL/6J) were sacrificed by aldehyde perfusion at ages ranging from 3 months to 23 months. Several brain areas and parts of other organs were processed for electron microscopy.At 3 months of age, very little evidence of NAD can be discerned by light microscopy. At the EM level, a few axons are found to contain dystrophic material. By 23 months of age, the entire nucleus gracilis is filled with dystrophic axons. Much less NAD is seen in nucleus cuneatus by comparison. The most recurrent pattern of NAD is an enlarged profile, in the center of which is a mass of reticulated material (reticulated portion; or RP).

Fibrinolytic Activity of Cerebro-Spinal Fluid and the Development of Artificial Cerebral Haematomas in Dogs

1969 ◽  
Vol 21 (02) ◽  
pp. 294-303 ◽  
Author(s):  
H Mihara ◽  
T Fujii ◽  
S Okamoto
Keyword(s):  
Cerebrospinal Fluid ◽  
Carboxylic Acid ◽  
Fibrinolytic Activity ◽  
Clinical Implications ◽  
Trans Form ◽  
Plate Method ◽  
Blood Samples ◽  
Fibrin Plate ◽  
The Brain

SummaryBlood was injected into the brains of dogs to produce artificial haematomas, and paraffin injected to produce intracerebral paraffin masses. Cerebrospinal fluid (CSF) and peripheral blood samples were withdrawn at regular intervals and their fibrinolytic activities estimated by the fibrin plate method. Trans-form aminomethylcyclohexane-carboxylic acid (t-AMCHA) was administered to some individuals. Genera] relationships were found between changes in CSF fibrinolytic activity, area of tissue damage and survival time. t-AMCHA was clearly beneficial to those animals given a programme of administration. Tissue activator was extracted from the brain tissue after death or sacrifice for haematoma examination. The possible role of tissue activator in relation to haematoma development, and clinical implications of the results, are discussed.

Neuromyelitis optica spectrum: novel concept of pathogenesis, diagnosis and treatment of Devic’s disease

2009 ◽  
Vol 150 (46) ◽  
pp. 2101-2109 ◽  
Author(s):  
Péter Csécsei ◽  
Anita Trauninger ◽  
Sámuel Komoly ◽  
Zsolt Illés
Keyword(s):  
Neuromyelitis Optica ◽  
Water Channel ◽  
Diagnostic Procedures ◽  
Diagnosis And Treatment ◽  
Clinical Settings ◽  
Permanent Disability ◽  
Therapeutic Decisions ◽  
Novel Concept ◽  
The Brain

The identification of autoantibodies generated against the brain isoform water channel aquaporin4 in the sera of patients, changed the current diagnostic guidelines and concept of neuromyelitis optica (NMO). In a number of cases, clinical manifestation is spatially limited to myelitis or relapsing optic neuritis creating a diverse. NMO spectrum. Since prevention of relapses provides the only possibility to reduce permanent disability, early diagnosis and treatment is mandatory. In the present study, we discuss the potential role of neuroimaging and laboratory tests in differentiating the NMO spectrum from other diseases, as well as the diagnostic procedures and therapeutic options. We also present clinical cases, to provide examples of different clinical settings, diagnostic procedures and therapeutic decisions.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

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