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Limbic-predominant Age-related TDP-43 Encephalopathy
LATE is a term that describes a prevalent condition with impaired memory and thinking in advanced age, often culminating in the dementia clinical syndrome. In other words, the symptoms of LATE are similar to those of Alzheimer's disease. The acronym LATE stands for Limbic-predominant Age-related TDP-43 Encephalopathy: “ limbic” is related to the brain areas first involved, “age-related” and the name “LATE” itself refer to the onset of disease usually in persons aged 80 or older, “ TDP-43” indicates the aberrant mis-folded protein (or proteinopathy) deposits in the brain that characterize LATE, and “ encephalopathy” means illness of brain. At present LATE can only be diagnosed with certainty at autopsy. The terminology used to refer to the brain changes identified in autopsy-confirmed LATE is: LATE neuropathologic change (LATE-NC). The diagnosis of LATE-NC at autopsy requires detection of pathologic TDP-43 protein deposits in the brain, especially in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LATE Fig
Late may refer to: * LATE, an acronym which could stand for: ** Limbic-predominant age-related TDP-43 encephalopathy, a proposed form of dementia ** Local-authority trading enterprise, a New Zealand business law ** Local average treatment effect, a concept in econometrics Music * ''Late'' (album), a 2000 album by The 77s * Late!, a pseudonym used by Dave Grohl on his ''Pocketwatch'' album * Late (rapper), an underground rapper from Wolverhampton * "Late" (song), a song by Blue Angel * "Late", a song by Kanye West from ''Late Registration'' Other * Late (Tonga), an uninhabited volcanic island southwest of Vavau in the kingdom of Tonga * "Late" (''The Handmaid's Tale''), a television episode * LaTe, Oy Laivateollisuus Ab, a defunct shipbuilding company * Late may refer to a person who is Dead See also * * * ''Lates'', a genus of fish in the lates perch family * Later (other) * Tardiness Tardiness is the habit of being late or delaying arrival. Being late as a f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frontotemporal Dementia
Frontotemporal dementia (FTD), or frontotemporal degeneration disease, or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of frontal and temporal lobes. FTDs broadly present as behavioral or language disorders with gradual onsets. The three main subtypes or variant syndromes are a behavioral variant (bvFTD) previously known as ''Pick's disease'', and two variants of primary progressive aphasia – semantic variant (svPPA), and nonfluent variant (nfvPPA). Two rare distinct subtypes of FTD are neuronal intermediate filament inclusion disease (NIFID), and basophilic inclusion body disease. Other related disorders include corticobasal syndrome and FTD with amyotrophic lateral sclerosis (ALS) ''FTD-ALS'' also called ''FTD- MND''. Frontotemporal dementias are mostly early-onset syndromes that are linked to frontotemporal lobar degeneration (FTLD), which is characterized by progressive neuronal loss predominantl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frontotemporal Lobar Degeneration
Frontotemporal lobar degeneration (FTLD) is a pathological process that occurs in frontotemporal dementia. It is characterized by atrophy in the frontal lobe and temporal lobe of the brain, with sparing of the parietal and occipital lobes. Common proteinopathies that are found in FTLD include the accumulation of tau proteins and TAR DNA-binding protein 43 (TDP-43). Mutations in the ''C9orf72'' gene have been established as a major genetic contribution of FTLD, although defects in the granulin (GRN) and microtubule-associated proteins (MAPs) are also associated with it. Classification There are 3 main histological subtypes found at post-mortem: * FTLD-tau is characterised by tau positive inclusion bodies often referred to as Pick-bodies. Examples of FTLD-tau include; Pick's disease, corticobasal degeneration, progressive supranuclear palsy. * FTLD-TDP (or FTLD-U ) is characterised by ubiquitin and TDP-43 positive, tau negative, FUS negative inclusion bodies. The pathologi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WWOX
WW domain-containing oxidoreductase is an enzyme that in humans is encoded by the ''WWOX'' gene. Function WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). The highest normal expression of this gene is detected in hormonally regulated tissues such as testis, ovary, and prostate. This expression pattern and the presence of an SRD domain suggest a role for this gene in steroid metabolism. The encoded protein is more than 90% identical to the mouse protein, which is an essential mediator of tumor necrosis factor-alpha-induced apoptosis, suggesting a similar, important role in apoptosis for the human protein. In addition, there is evidence that this gene behaves as a suppressor of tumor growth. Alternative splicing of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KCNMB2
Calcium-activated potassium channel subunit beta-2 is a protein that in humans is encoded by the ''KCNMB2'' gene. Big Potassium (BK) channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. BK channels can contain two distinct subunits: a pore-forming alpha subunit and a modulatory beta subunit. Each complete BK channel contains four copies of the pore-forming alpha subunit and up to four beta subunits. The protein encoded by the KCNMB2 gene is an auxiliary beta subunit which influences the calcium sensitivity of BK currents and, following activation of BK current, causes persistent inactivation. The subunit encoded by the KCNMB2 gene is expressed in various endocrine cells, including pancreas and adrenal chromaffin cells. It is also found in the brain, including the hippocampus. The KCNMB2 gene is homologous to three other genes found in mammalian genomes: KCNMB1 (found p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABCC9
ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ''ABCC9'' gene. Function The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in several products, two of which result from differential usage of two terminal exons and one of whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apolipoprotein E
Apolipoprotein E (APOE) is a protein involved in the metabolism of fats in the body of mammals. A subtype is implicated in Alzheimer's disease and cardiovascular disease. APOE belongs to a family of fat-binding proteins called apolipoproteins. In the circulation, it is present as part of several classes of lipoprotein particles, including chylomicron remnants, VLDL, IDL, and some HDL. APOE interacts significantly with the low-density lipoprotein receptor (LDLR), which is essential for the normal processing (catabolism) of triglyceride-rich lipoproteins. In peripheral tissues, APOE is primarily produced by the liver and macrophages, and mediates cholesterol metabolism. In the central nervous system, APOE is mainly produced by astrocytes and transports cholesterol to neurons via APOE receptors, which are members of the low density lipoprotein receptor gene family. APOE is the principal cholesterol carrier in the brain. APOE is required for cholesterol transportation from astro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Granulin
Granulin is a protein that in humans is encoded by the ''GRN'' gene. Each granulin protein is cleaved from the precursor progranulin, a 593 amino-acid-long and 68.5 kDa protein. While the function of progranulin and granulin have yet to be determined, both forms of the protein have been implicated in development, inflammation, cell proliferation and protein homeostasis. The 2006 discovery of the GRN mutation in a population of patients with frontotemporal dementia has spurred much research in uncovering the function and involvement in disease of progranulin in the body. While there is a growing body of research on progranulin's role in the body, studies on specific granulin residues are still limited. Progranulin Progranulin is the precursor protein for granulin. Cleavage of progranulin produces a variety of active 6 kDa granulin peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TMEM106B
Transmembrane protein 106B is a protein that is encoded by the ''TMEM106B'' gene. It is found primarily within neurons and oligodendrocytes in the central nervous system with its subcellular location being in lysosomal membranes. TMEM106B helps facilitate important functions for maintaining a healthy lysosome, and therefore certain mutations and polymorphisms can lead to issues with proper lysosomal function. Lysosomes are in charge of clearing out mis-folded proteins and other debris, and thus, play an important role in neurodegenerative diseases that are driven by the accumulation of various mis-folded proteins and aggregates. Due to its impact on lysosomal function, TMEM106B has been investigated and found to be associated to multiple neurodegenerative diseases. Structure Gene In humans,''TMEM106B'' is found on chromosome 7 at positions 12211270 - 12243367, totaling 32097 base pairs. The gene includes 9 exons and can give rise to 2 different isoforms, T185 and S185, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hippocampal Sclerosis
Hippocampal sclerosis (HS) or mesial temporal sclerosis (MTS) is a neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus, specifically in the CA-1 (Cornu Ammonis area 1) and subiculum of the hippocampus. It was first described in 1880 by Wilhelm Sommer. Hippocampal sclerosis is a frequent pathologic finding in community-based dementia. Hippocampal sclerosis can be detected with autopsy or MRI. In MRI, a decrease in signal is observed at T1 and an increase in signal at T2. Positron emission tomography is also used as an aid for diagnosis. In PET examination, glucose uptake is lower than in the normal part. The reason for this is that the sclerotic part works at a lower level than the normal part and needs less energy. Individuals with hippocampal sclerosis have similar initial symptoms and rates of dementia progression to those with Alzheimer's disease (AD) and therefore are frequently misclassified as having Alzheimer's Disease. But clinic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
