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Early Onset Alzheimer's
Early-onset Alzheimer's disease (EOAD), also called younger-onset Alzheimer's disease (YOAD), is Alzheimer's disease diagnosed before the age of 65. It is an uncommon form of Alzheimer's, accounting for only 5–10% of all Alzheimer's cases. About 60% have a positive family history of Alzheimer's and 13% of them are inherited in an autosomal dominant manner. Most cases of early-onset Alzheimer's share the same traits as the "late-onset" form and are not caused by known genetic mutations. Little is understood about how it starts. Nonfamilial early-onset AD can develop in people who are in their 30s or 40s, but this is extremely rare, and mostly people in their 50s or early 60s are affected. Familial and nonfamilial Alzheimer's disease Alzheimer's disease (AD) is a neurodegenerative disease and the most common cause of dementia; it usually occurs in old age. Familial Alzheimer's disease (FAD or EOFAD for early onset) is an inherited and uncommon form of AD. Familial AD usually ...
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William Utermohlen
William Charles Utermohlen (December 5, 1933 – March 21, 2007) was an American figurative artist known for his late-period self-portraits completed after his diagnosis of probable Alzheimer's disease. He was diagnosed in 1995, having had progressive Memory disorder, memory loss since 1991. After diagnosis he began a series of self-portraits influenced by both the figurative painter Francis Bacon (artist), Francis Bacon and cinematographers from the German Expressionism (cinema), German Expressionism movement. The last of his self-portraits was completed , some six years before his death. Born to Immigrant generations, first-generation German immigrants in South Philadelphia, Utermohlen earned a scholarship at the Philadelphia Academy of Fine Arts (PAFA) in 1951. After completing military service, he spent 1953 studying in Europe where he was inspired by Renaissance art, Renaissance and Baroque artists. He moved to London in 1962 and married the art historian Patricia Redmond ...
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Hallucination
A hallucination is a perception in the absence of an external stimulus that has the compelling sense of reality. They are distinguishable from several related phenomena, such as dreaming ( REM sleep), which does not involve wakefulness; pseudohallucination, which does not mimic real perception, and is accurately perceived as unreal; illusion, which involves distorted or misinterpreted real perception; and mental imagery, which does not mimic real perception, and is under voluntary control. Hallucinations also differ from " delusional perceptions", in which a correctly sensed and interpreted stimulus (i.e., a real perception) is given some additional significance. Hallucinations can occur in any sensory modality— visual, auditory, olfactory, gustatory, tactile, proprioceptive, equilibrioceptive, nociceptive, thermoceptive and chronoceptive. Hallucinations are referred to as multimodal if multiple sensory modalities occur. A mild form of hallucination is known as ...
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Delta Catenin
Delta commonly refers to: * Delta (letter) (Δ or δ), the fourth letter of the Greek alphabet * D (NATO phonetic alphabet: "Delta"), the fourth letter in the Latin alphabet * River delta, at a river mouth * Delta Air Lines, a major US carrier Delta may also refer to: Places Canada * Delta, British Columbia ** Delta (federal electoral district), a federal electoral district ** Delta (provincial electoral district) * Delta, Ontario United States * Mississippi Delta * Arkansas Delta * Delta, Alabama * Delta Junction, Alaska * Delta, Colorado * Delta, Illinois * Delta, Iowa * Delta, Kentucky * Delta, Louisiana * Delta, Missouri * Delta, North Carolina * Delta, Ohio * Delta, Pennsylvania * Sacramento–San Joaquin River Delta, California * Delta, Utah * Delta, Wisconsin, a town and an unincorporated community * Delta County (other) Elsewhere * Delta Island, Antarctica * Delta Stream, Antarctica * Delta, Minas Gerais, Brazil * Nile Delta, Egypt * Delta, Thessalon ...
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Amyloid-beta Precursor Protein
Amyloid-beta precursor protein (APP) is an integral membrane protein expressed in many tissues and concentrated in the synapses of neurons. It functions as a cell surface receptor and has been implicated as a regulator of synapse formation, neural plasticity, antimicrobial activity, and iron export. It is coded for by the gene ''APP'' and regulated by substrate presentation. APP is best known as the precursor molecule whose proteolysis generates amyloid beta (Aβ), a polypeptide containing 37 to 49 amino acid residues, whose amyloid fibrillar form is the primary component of amyloid plaques found in the brains of Alzheimer's disease patients. Genetics Amyloid-beta precursor protein is an ancient and highly conserved protein. In humans, the gene ''APP'' is located on chromosome 21 and contains 18 exons spanning 290 kilobases. Several alternative splicing isoforms of APP have been observed in humans, ranging in length from 639 to 770 amino acids, with certain isoforms pr ...
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Presenilin 2
Presenilin-2 is a protein that (in humans) is encoded by the ''PSEN2'' gene. Function Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Two alternative transcripts of PSEN2 have been identified. In melanocytic cells PSEN2 gene expression may be regulated by MITF. Interactions PSEN2 has been shown to interact with: * BCL2-like 1, * CAPN1, * CIB1, * Calsenilin, * FHL2, * FLNB, ...
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PSEN1
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the ''PSEN1'' gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease. Structure Presenilin possesses a 9 transmembrane domain topology, with an extracellular C-terminus and a cytosolic N-terminus. Presenilin undergoes endo-proteolytic processing to produce ~27-28 kDa N-terminal and ~16-17 kDa C-terminal fragments in humans. Furthermore, presenilin exists in the cell mainly as a heterodimer of the C-terminal and N-terminus fragments. When presenilin 1 is overexpressed, the full length protein accumulates in an inactive form. Based on evidence that a gamma-secretase inhibitor binds to the fragments, the cleaved presenilin complex is considered to be the active form. Function ...
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Differentiation Of Human-Induced Pluripotent Stem Cells To GABAergic Neurons
Differentiation may refer to: Business * Differentiation (economics), the process of making a product different from other similar products * Product differentiation, in marketing * Differentiated service, a service that varies with the identity of the consumer or the context in which the service is used Science, technology, and mathematics Biology and medicine * Cellular differentiation, in biology * ''Differentiation'' (journal), a peer-reviewed academic journal covering cell differentiation and cell development * Developmental biology, the study of the process by which animals and plants grow and develop * Differentiation therapy, a cancer treatment in which malignant cells are encouraged to differentiate into more mature forms using pharmacological agents Geology * Igneous differentiation, in geology * Planetary differentiation, in planetary science and geology Social sciences * Differentiation (economics), the process of making a product different from other similar produ ...
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Autosomal Dominant Pedigree Chart
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome ...
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Mutism
In human development, muteness or mutism is defined as an absence of speech, with or without an ability to hear the speech of others. Mutism is typically understood as a person's inability to speak, and commonly observed by their family members, caregivers, teachers, doctors or speech and language pathologists. It may not be a permanent condition, as muteness can be caused or manifest due to several different phenomena, such as physiological injury, illness, medical side effects, psychological trauma, developmental disorders, or neurological disorders. A specific physical disability or communication disorder can be more easily diagnosed. Loss of previously normal speech (aphasia) can be due to accidents, disease, or surgical complication; it is rarely for psychological reasons. Treatment or management also varies by cause and this can often be determined after a speech assessment. Treatment can sometimes restore speech. If not, a range of assistive and augmentative communicati ...
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Fecal Incontinence
Fecal incontinence (FI), or in some forms, encopresis, is a lack of control over defecation, leading to involuntary loss of bowel contents—including flatus (gas), liquid stool elements and mucus, or solid feces. FI is a sign or a symptom, not a diagnosis. Incontinence can result from different causes and might occur with either constipation or diarrhea. Continence is maintained by several interrelated factors, including the anal sampling mechanism, and incontinence usually results from a deficiency of multiple mechanisms. The most common causes are thought to be immediate or delayed damage from childbirth, complications from prior anorectal surgery (especially involving the anal sphincters or hemorrhoidal vascular cushions), altered bowel habits (e.g., caused by irritable bowel syndrome, Crohn's disease, ulcerative colitis, food intolerance, or constipation with overflow incontinence). Reported prevalence figures vary: an estimated 2.2% of community-dwelling adult ...
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Urinary Incontinence
Urinary incontinence (UI), also known as involuntary urination, is any uncontrolled leakage of urine. It is a common and distressing problem, which may have a significant effect on quality of life. Urinary incontinence is common in older women and has been identified as an important issue in geriatric health care. The term enuresis is often used to refer to urinary incontinence primarily in children, such as nocturnal enuresis (bed wetting). UI is an example of a stigmatized medical condition, which creates barriers to successful management and makes the problem worse. People may be too embarrassed to seek medical help, and attempt to self-manage the symptom in secrecy from others. Pelvic surgery, pregnancy, childbirth, attention deficit disorder (ADHD), and menopause are major risk factors. Urinary incontinence is often a result of an underlying medical condition but is under-reported to medical practitioners. There are four main types of incontinence: * Urge incontinence ...
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Myoclonus
Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus ( myo- "muscle", clonus "spasm") describes a medical sign and, generally, is not a diagnosis of a disease. It belongs to the hyperkinetic movement disorders, among tremor and chorea for example. These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions (''positive myoclonus'') or brief lapses of contraction (''negative myoclonus''). The most common circumstance under which they occur is while falling asleep ( hypnic jerk). Myoclonic jerks occur in healthy people and are experienced occasionally by everyone. However, when they appear with more persistence and become more widespread they can be a sign of various neurological disorders. Hiccups are a kind of myoclonic jerk specifically affecting the diaphragm. When a spasm is caused by another person it is kn ...
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