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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.
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.
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...
As a result of this gait impairment, falling is a concern in patients with ataxia. [3] Truncal ataxia affects the muscles closer to the body such as the trunk, shoulder girdle and hip girdle. It is involved in gait stability. [3] Truncal ataxia is different from appendicular ataxia. Appendicular ataxia affects the movements of the arms and legs.
Ataxia-telangiectasia group D complementing (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse model of pancreatic cancer. [1] [2]