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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Neurologic symptoms and signs vary depending on the site of the brain abnormalities. Common symptoms are partial epilepsy, asymmetric spasticity, ataxia and cognitive impairment. [1] [2] [3] The latter affects visuospatial and visuoconstructive skills first. The intracranial pressure can be elevated if cysts develop in the brain.
Some plaques occur in the brain as a result of aging, but large numbers of plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. [5] The plaques are highly variable in shape and size; in tissue sections immunostained for Aβ, they comprise a log-normal size distribution curve, with an average plaque area of 400 ...
CAA is associated with brain hemorrhages, particularly microhemorrhages.The accumulation of amyloid beta peptide deposits in the blood vessel walls results in damage of the blood vessels and hindrance of normal blood flow, making blood vessels more prone to bleeding [10] Since CAA can be caused by the same amyloid protein that is associated with Alzheimer's dementia, brain bleeds [11] are more ...
Cerebral atherosclerosis is a type of atherosclerosis where build-up of plaque in the blood vessels of the brain occurs. Some of the main components of the plaques are connective tissue, extracellular matrix, including collagen, proteoglycans, fibronectin, and elastic fibers; crystalline cholesterol, cholesteryl esters, and phospholipids; cells such as monocyte derived macrophages, T ...
Subdural hygromas require two conditions in order to occur. First, there must be a separation in the layers of the Meninges of the brain. Second, the resulting subdural space that occurs from the separation of layers must remain uncompressed in order for CSF to accumulate in the subdural space, resulting in the hygroma. [1]
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Treatment is supportive and focused on improving symptoms: Dystonia is a common debilitating symptom and can be managed with oral medications, and sometimes with deep-brain electrical stimulation, therapy support for walking, eating, and manual tasks is essential. Later, in many of the diseases, slowing and stopping of movement (known as ...