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Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [2] A–T affects many parts of ...
Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1), is an enzyme that, in humans, is encoded by the ATR gene. [5] [6] It is a large kinase of about 301.66 kDa. [7] ATR belongs to the phosphatidylinositol 3-kinase-related kinase protein family.
Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical pathway), oxidative stress, topoisomerase cleavage complexes, splicing intermediates, R-loops and in some cases by single-strand DNA breaks. [5]
Ankle problems occur frequently, having symptoms of pain or discomfort in the ankles. [1] [2] Mild ankle pain can often be cured by home treatments, although these may be slow to take effect. Specialized physicians are needed if the condition is severe, especially if it has been caused by injury. [2]
Telangiectasia in the legs is often related to the presence of venous reflux within underlying varicose veins. Flow abnormalities in smaller veins known as reticular veins or feeder veins under the skin can also cause spider veins to form, thereby making a recurrence of spider veins in the treated area less likely.
Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [ 2 ]
Sinus tarsi syndrome can have a variety of causes. The most common is an inversion (rolling out) ankle sprain, which makes up 70-80% of cases, followed by pronation of the foot, which is responsible for about 20-30% of cases. [3] More rarely, excessive physical activity and other forms of foot trauma/chronic ankle injury are thought to be the ...