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A–T is caused by mutations in the ATM (ATM serine/threonine kinase or ataxia–telangiectasia mutated) gene, which was cloned in 1995. [3] ATM is located on human chromosome 11 (11q22.3) and is made up of 69 exons spread across 150kb of genomic DNA. [25] The mode of inheritance for A–T is autosomal recessive. Each parent is a carrier ...
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 ...
There are five typical autosomal-recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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]
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.
The ICARS has been validated for use in patients with focal cerebellar lesions [1] and hereditary spinocerebellar and Friedrich's ataxia. [2] [3] More recently, two shorter ataxia scales based upon the ICARS have been created and validated, the Scale for the Assessment and Rating of Ataxia (SARA) [4] and the Brief Ataxia Rating Scale (BARS). [5]
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.
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