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Leukoencephalopathy
Leukoencephalopathy (leukodystrophy-like diseases) is a term that describes all of the brain white matter diseases, whether their molecular cause is known or unknown. It can refer specifically to any of these diseases: *Progressive multifocal leukoencephalopathy * Toxic leukoencephalopathy *Leukoencephalopathy with vanishing white matter *Leukoencephalopathy with neuroaxonal spheroids *Reversible posterior leukoencephalopathy syndrome * Megalencephalic leukoencephalopathy with subcortical cysts. It can also refer to gene MLC1 or Megalencephalic leukoencephalopathy with subcortical cysts 1, a human gene related to the former disease. *Hypertensive leukoencephalopathy The classification of leukoencephalopathies is a matter of debate. Some authors divide leukoencephalopathies into hereditary disorders and acquired disorders. The hereditary demyelinating disorders are then classified according to the localization of the underlying metabolic defect, and they include the leukodystrophies ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Toxic Leukoencephalopathy
Toxic leukoencephalopathy is a rare condition that is characterized by progressive damage (-pathy) to white matter (-leuko-) in the brain (-encephalo-), particularly myelin, due to causes such as exposure to substance use, environmental toxins, or chemotherapeutic drugs. The prevalence of this disease is infrequent and often goes unreported, especially in cases resulting from substance use. Magnetic resonance imaging (MRI) is a popular method to study and diagnose the disease. However, even with technological advances, the exact mechanism and underlying pathophysiology of toxic leukoencephalopathy remains unknown and is thought to vary between sources of toxicity. The clinical severity of toxic leukoencephalopathy also varies among patients, exposure time, concentration, and purity of the toxic agent. Some reversibility of the condition has been seen in many cases when the toxic agent is removed. Signs and symptoms Symptoms vary widely between sources of toxicity, dosage, lengt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukoencephalopathy With Neuroaxonal Spheroids
Leukoencephalopathy with neuroaxonal spheroids (LENAS) is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease. LENAS is a cause of severe and subacute dementia that results from damage to certain areas of the brain. This damage is to a type of brain tissue called white matter and axon damage due to swellings which are termed spheroids. The rarity and unknown prevalence of this disease may be due to most symptoms being similar to other common disorders, leading to misdiagnosis. LENAS normally has an adult onset (but also can be present in childhood), which can present on MRIs that mimics progressive multiple sclerosis and is thus misdiagnosed for this instead. The genetic etiology of LENAS is known to follow an autosomal dominant pattern through a mutation in the CSF1R gene. Signs and Symptoms The signs and symptoms that are present vary with each individual as some may have all symptoms while some may only have some listed below. Ho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progressive Multifocal Leukoencephalopathy
Progressive multifocal leukoencephalopathy (PML) is a rare and often fatal viral disease characterized by progressive damage (''-pathy'') or inflammation of the white matter (''leuko-'') of the brain (''-encephalo-'') at multiple locations (''multifocal''). It is caused by the JC virus, which is normally present and kept under control by the immune system. The JC virus is harmless except in cases of weakened immune systems. In general, PML has a mortality rate of 30–50% in the first few months, and those who survive can be left with varying degrees of neurological disabilities. PML occurs almost exclusively in patients with severe immune deficiency, most commonly among patients with acquired immune deficiency syndrome (AIDS), but people on chronic immunosuppressive medications including chemotherapy are also at increased risk of PML, such as patients with transplants, Hodgkin's lymphoma, multiple sclerosis, psoriasis, rheumatoid arthritis, and other autoimmune diseases. Sig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargement of the head (macrocephaly) as well as delayed-onset neurological deterioration to include spasticity, epilepsy, and lack of muscular coordination. MLC does not appear to be a disease that is fatal at birth or early in life despite its symptoms, although the number of patients throughout history known to have the disease is fairly limited. It belongs to a group of disorders called leukodystrophies. A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-) in 1991. However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995. There are three ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukoencephalopathy With Vanishing White Matter
Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies. Symptoms and signs Onset usually occurs in childhood, however some adult cases have been found. Generally, physicians look for the symptoms in children. Symptoms include cerebellar ataxia, spasticity, optic atrophy, epilepsy, loss of motor functions, irritability, vomiting, coma, and even fever has been tied to VWM. The neurological disorders and symptoms which occur with VWM are not specific to countries; they are the same all over the world. Neurological abnormalities may not always be present in those who experience onset as adults. Symptoms generally appear in young children or infants who were previously developing fairly n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukodystrophy
Leukodystrophies are a group of usually inherited disorders characterized by degeneration of the white matter in the brain. The word ''leukodystrophy'' comes from the Greek roots ''leuko'', "white", ''dys'', "abnormal" and ''troph'', "growth". The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause. When damage occurs to white matter, immune responses can lead to inflammation in the central nervous system (CNS), along with loss of myelin. The degeneration of white matter can be seen in an MRI scan and used to diagnose leukodystrophy. Leukodystrophy is characterized by specific symptoms including decreased motor function, muscle rigidity, and eventual dege ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Posterior Reversible Encephalopathy Syndrome
Posterior reversible encephalopathy syndrome (PRES), also known as reversible posterior leukoencephalopathy syndrome (RPLS), is a rare condition in which parts of the brain are affected by swelling, usually as a result of an underlying cause. Someone with PRES may experience headache, visual impairment, changes in vision, and seizures, with some developing other neurological symptoms such as confusion or hemiplegia, weakness of one or more limbs. The name of the condition includes the word "posterior" because it predominantly though not exclusively affects the back of the brain (the parietal lobe, parietal and occipital lobes). Common underlying causes are Hypertensive emergency, severely elevated blood pressure, kidney failure, sepsis, severe infections, certain medications, some autoimmune diseases, and pre-eclampsia. The diagnosis is usually made by brain scan (magnetic resonance imaging, MRI) on which areas of swelling can be identified. The treatment for PRES is supportive: re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MLC1
Membrane protein MLC1 is a protein that in humans is encoded by the ''MLC1'' gene. MLC1 (also called ''WKL1'') is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). Evidence exists for at least one other gene for MLC, but it has not been mapped or identified. Function The function of this gene product is not known; however, homology to other proteins suggests that it may be an integral membrane transport protein. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargeme ..., an autosomal recessive neurological disorder. The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertensive Leukoencephalopathy
Hypertensive leukoencephalopathy refers to a degeneration of the white matter of the brain following a sudden increase in blood pressure.Blueprints Neurology, 2nd ed. Signs and symptoms Symptoms include sudden increase in blood pressure, acute confusional state, headaches, vomiting, and seizure. Retinal hemorrhages and hard exudates may be present on funduscopic exam. Hypertensive leukoencephalopathy may have concurrent cardiac ischemia and hematuria. Diagnosis MRI shows hyperintensities on T2 weighted imaging, localized usually to the parietal and occipital regions. Treatment Antihypertensives may be an effective treatment. See also *Leukoencephalopathy *Leukodystrophy Leukodystrophies are a group of usually inherited disorders characterized by degeneration of the white matter in the brain. The word ''leukodystrophy'' comes from the Greek roots ''leuko'', "white", ''dys'', "abnormal" and ''troph'', "growth". Th ... References External links {{Medical resources , D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marjo Van Der Knaap
Marjo S. van der Knaap (born 9 May 1958) is a Dutch professor of pediatric neurology at VU University Amsterdam and the VU University Medical Center. She was a winner of the 2008 Spinoza Prize. Her research focuses on white matter disorders. Early life and education Van der Knaap was born on 9 May 1958 in Delft. In 1984 she obtained a cum laude degree in medicine from Erasmus University Rotterdam. She continued her PhD studies and graduated cum laude in 1991 from Utrecht University's department of pediatric neurology, while also collaborating with the department of neuroradialogy of VU University Amsterdam. Career and research In 1999, she became professor of pediatric neurology at VU University Amsterdam. Van der Knaap's research focuses on white matter disorders. In the 1980s she started working with Magnetic resonance imaging (MRI), of which she stated it is pivotal for her work. In the field, she developed a computer-guided recognition system for known diseases. She disc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CADASIL Syndrome
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the '' Notch 3'' gene on chromosome 19. The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease. The condition was identified and named by French researchers Marie-Germaine Bousser and Elisabeth Tournier-Lasserve in the 1990s. Together with two other researchers, Hugues Chabriat and Anne Joutel, they received the 2019 Brain Prize for their research into the condition. Signs and symptoms CADASIL may start with attacks of migraine with aura or subcortical transient ischemic att ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain
A brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It is located in the head, usually close to the sensory organs for senses such as vision. It is the most complex organ in a vertebrate's body. In a human, the cerebral cortex contains approximately 14–16 billion neurons, and the estimated number of neurons in the cerebellum is 55–70 billion. Each neuron is connected by synapses to several thousand other neurons. These neurons typically communicate with one another by means of long fibers called axons, which carry trains of signal pulses called action potentials to distant parts of the brain or body targeting specific recipient cells. Physiologically, brains exert centralized control over a body's other organs. They act on the rest of the body both by generating patterns of muscle activity and by driving the secretion of chemicals called hormones. This centralized control allows rapid and coordinated responses ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
