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Familial British Dementia
Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought in 1933 and is therefore also known as Worster-Drought syndrome. It is caused by a mutation in the ITM2B gene (also known as BRI2); a different mutation of the same gene causes the similar syndrome of familial Danish dementia. The combination of amyloid pathology and neurofibrillary tangles has led to comparison with the pathology of Alzheimer's disease Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term me .... References Dementia {{med-diagnostic-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dementia
Dementia is a disorder which manifests as a set of related symptoms, which usually surfaces when the brain is damaged by injury or disease. The symptoms involve progressive impairments in memory, thinking, and behavior, which negatively affects a person's ability to function and carry out everyday activities. Aside from memory impairment and a disruption in thought patterns, the most common symptoms include emotional problems, difficulties with language, and decreased motivation. The symptoms may be described as occurring in a continuum over several stages. Consciousness is not affected. Dementia ultimately has a significant effect on the individual, caregivers, and on social relationships in general. A diagnosis of dementia requires the observation of a change from a person's usual mental functioning, and a greater cognitive decline than what is caused by normal aging. Several diseases and injuries to the brain, such as a stroke, can give rise to dementia. However, th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cecil Charles Worster-Drought
Cecil Charles Worster-Drought (2 August 1888–27 October 1971) was an English physician and neurologist. He discovered and named Worster-Drought syndrome. He was one of the founders of Moor House School, Oxted Oxted is a town and civil parish in the Tandridge district of Surrey, England, at the foot of the North Downs. It is south south-east of Croydon in Greater London, west of Sevenoaks in Kent, and north of East Grinstead in West Sussex. Oxte ..., Surrey, a school that specialises in speech and language disorders. References 1888 births 1971 deaths 20th-century English medical doctors {{UK-med-bio-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITM2B
Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ''ITM2B'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... ''ITM2B'' or ''BRI2'' is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's. References Further reading * * * * * * * * * * * * * * {{gene-13-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Danish Dementia
Familial Danish Dementia is a rare neurodegenerative disease that is mostly hereditary and resembles Alzheimer's. The condition was first reported in the Djursland peninsula in Denmark. It is one of the two types of hereditary cerebral amyloid angiopathy alongside familial British dementia. The disorder is histopathologically characterized by severe cerebral amyloid angiopathy with neurofibrillary tangle deposition in the limbic system and the neocortex. It is also neuropathologically characterized by diffuse atrophy of cerebellum, cranial nerves, and the spinal cord. Symptoms and signs Symptoms like cataracts, deafness, or ataxia appear before age 40. Cerebellar ataxias appears around age 40. There is also paranoid psychosis and dementia. Which both occur when the patient reaches their fifties. Although paranoid psychosis which typically develops after age 50. Hearing impairments Hearing loss can appear around 40s to 50s. Hearing impairments can also appear as young as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloid
Amyloids are aggregates of proteins characterised by a Fibril, fibrillar morphology of 7–13 Nanometer, nm in diameter, a beta sheet (β-sheet) Secondary structure of proteins, secondary structure (known as cross-β) and ability to be Staining, stained by particular dyes, such as Congo red. In the human body, amyloids have been linked to the development of various diseases. Pathogenic amyloids form when previously healthy proteins lose their normal Protein structure, structure and physiology, physiological functions (Protein misfolding, misfolding) and form fibrous deposits in amyloid plaques around cells which can disrupt the healthy function of tissues and organs. Such amyloids have been associated with (but not necessarily as the cause of) more than 50 human diseases, known as amyloidosis, and may play a role in some neurodegenerative diseases. Some of these diseases are mainly sporadic and only a few cases are Genetic disorder, familial. Others are only Genetic disorder, fam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibrillary Tangles
Neurofibrillary tangles (NFTs) are aggregates of hyperphosphorylated tau protein that are most commonly known as a primary biomarker of Alzheimer's disease. Their presence is also found in numerous other diseases known as tauopathies. Little is known about their exact relationship to the different pathologies. Formation Neurofibrillary tangles are formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate, or group, in an insoluble form. (These aggregations of hyperphosphorylated tau protein are also referred to as PHF, or " paired helical filaments"). The precise mechanism of tangle formation is not completely understood, and it is still controversial whether tangles are a primary causative factor in disease or play a more peripheral role. Cytoskeletal changes Three different maturation states of NFT have been defined using anti-tau and anti-ubiquitin immunostaining. At stage 0 there are morphologically normal pyramidal cells showi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term memory, remembering recent events. As the disease advances, symptoms can include primary progressive aphasia, problems with language, Orientation (mental), disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and challenging behaviour, behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the typical life expectancy following diagnosis is three to nine years. The cause of Alzheimer's disease is poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an alle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
