Familial Danish Dementia
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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 ...
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Cataracts
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ...
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Cataract
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ...
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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

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Autosome
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 allosome, 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 human genome, 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 of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ...
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Central Nervous System
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain and spinal cord. The CNS is so named because the brain integrates the received information and coordinates and influences the activity of all parts of the bodies of bilaterally symmetric and triploblastic animals—that is, all multicellular animals except sponges and diploblasts. It is a structure composed of nervous tissue positioned along the rostral (nose end) to caudal (tail end) axis of the body and may have an enlarged section at the rostral end which is a brain. Only arthropods, cephalopods and vertebrates have a true brain (precursor structures exist in onychophorans, gastropods and lancelets). The rest of this article exclusively discusses the vertebrate central nervous system, which is radically distinct from all other animals. Overview In vertebrates, the brain and spinal cord are both enclosed in the meninges. The meninges provide a barrier to chemicals dissolv ...
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Cerebral Amyloid Angiopathy
Cerebral amyloid angiopathy (CAA) is a form of angiopathy in which amyloid beta peptide deposits in the walls of small to medium blood vessels of the central nervous system and meninges. The term ''congophilic'' is sometimes used because the presence of the abnormal aggregations of amyloid can be demonstrated by microscopic examination of brain tissue after staining with Congo red. The amyloid material is only found in the brain and as such the disease is not related to other forms of amyloidosis. Signs and symptoms CAA is associated with brain hemorrhages, particularly microhemorrhages. Since CAA can be caused by the same amyloid protein that is associated with Alzheimer's dementia, brain bleeds are more common in people who have a diagnosis of Alzheimer's disease. However, they can also occur in those who have no history of dementia. The bleeding within the brain is usually confined to a particular lobe and this is slightly different compared to brain bleeds which occur as a ...
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Stereotyped Behavior
A stereotypy (, or ) is a repetitive or ritualistic movement, posture, or utterance. Stereotypies may be simple movements such as body rocking, or complex, such as self-caressing, crossing and uncrossing of legs, and marching in place. They are found especially in people with autism spectrum disorders and visually impaired children, and are also found in intellectual disabilities, tardive dyskinesia and stereotypic movement disorder, yet may also be encountered in neurotypical individuals as well. Studies have shown stereotypies associated with some types of schizophrenia. Frontotemporal dementia is also a common neurological cause of repetitive behaviors and stereotypies. Several causes have been hypothesized for stereotypy, and several treatment options are available. Stereotypy is sometimes called '' stimming'' in autism, under the hypothesis that it self-stimulates one or more senses. Among people with frontotemporal lobar degeneration, more than half (60%) had stereotyp ...
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Dyscalculia
Dyscalculia () is a disability resulting in difficulty learning or comprehending arithmetic, such as difficulty in understanding numbers, learning how to manipulate numbers, performing mathematical calculations, and learning facts in mathematics. It is sometimes colloquially referred to "math dyslexia", though this analogy is misleading as they are distinct syndromes. Dyscalculia is associated with dysfunction in the region around the intraparietal sulcus and potentially also the frontal lobe. Dyscalculia does not reflect a general deficit in cognitive abilities or difficulties with time, measurement, and spatial reasoning. Estimates of the prevalence of dyscalculia range between 3 and 6% of the population. In 2015 it was established that 11% of children with dyscalculia also have ADHD. Dyscalculia has also been associated with Turner syndrome and people who have spina bifida. Mathematical disabilities can occur as the result of some types of brain injury, in which case the term ...
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Spasticity
Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. Clinically, spasticity results from the loss of inhibition of motor neurons, causing excessive velocity-dependent muscle contraction. This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. Spasticity is often treated with the drug baclofen, which acts as an agonist at GABA receptors, which are inhibitory. Spastic cerebral palsy is the most common form of cerebral palsy, which is a group of permanent movement problems that do not get worse over time. GABA's inhibitory actions contribute to baclofen's efficacy as an anti-spasticity agent. Cause Spasticity mostly occurs in disorders of the central nervous system (CNS) affecting the upper motor neurons in the form of a lesion, such as spastic diplegia, or upper motor neu ...
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Intention Tremor
Intention tremor is a dyskinetic disorder characterized by a broad, coarse, and low frequency (below 5 Hz) tremor evident during deliberate and visually-guided movement (hence the name intention tremor). An intention tremor is usually perpendicular to the direction of movement. When experiencing an intention tremor, one often overshoots or undershoots one's target, a condition known as dysmetria.
Seeberger, Lauren. "Cerebellar Tremor-Definition and Treatment." The Colorado Neurological Institute Review. Fall 2005.
Intention tremor is the result of dysfunction of the , particularly on the same side as the tremor in the lateral zone, which controls visually guided movements. Depending on the location of ce ...
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Hearing Loss
Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language acquisition, acquire spoken language, and in adults it can create difficulties with social interaction and at work. Hearing loss can be temporary or permanent. Presbycusis, Hearing loss related to age usually affects both ears and is due to cochlear hair cell loss. In some people, particularly older people, hearing loss can result in loneliness. Deafness, Deaf people usually have little to no hearing. Hearing loss may be caused by a number of factors, including: genetics, ageing, Noise-induced hearing loss, exposure to noise, some infections, birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections. Certain infections during pregnancy, such as cyt ...
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