enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. Ataxia–telangiectasia - Wikipedia

    en.wikipedia.org/wiki/Ataxiatelangiectasia

    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 ...

  3. International Cooperative Ataxia Rating Scale - Wikipedia

    en.wikipedia.org/wiki/International_Cooperative...

    The International Cooperative Ataxia Rating Scale (ICARS) is an outcome measure that was created in 1997 by the Committee of the World Federation of Neurology with the goal of standardizing the quantification of impairment due to cerebellar ataxia. The scale is scored out of 100 with 19 items and 4 subscales of postural and gait disturbances ...

  4. Friedreich's ataxia - Wikipedia

    en.wikipedia.org/wiki/Friedreich's_ataxia

    FRDA is the most prevalent inherited ataxia, affecting approximately 1 in 40,000 with European descent. [15] Males and females are affected equally. The estimated carrier prevalence is 1:100. [5] A 1990–1996 study of Europeans calculated the incidence rate was 2.8:100,000. [40] The prevalence rate of FRDA in Japan is 1:1,000,000. [41]

  5. Ataxia - Wikipedia

    en.wikipedia.org/wiki/Ataxia

    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.

  6. Spinocerebellar ataxia - Wikipedia

    en.wikipedia.org/wiki/Spinocerebellar_ataxia

    There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.) [citation needed] 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.

  7. ATM serine/threonine kinase - Wikipedia

    en.wikipedia.org/wiki/ATM_serine/threonine_kinase

    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]

  8. Trinucleotide repeat expansion - Wikipedia

    en.wikipedia.org/wiki/Trinucleotide_repeat_expansion

    Friedreich's ataxia is an autosomal recessive disorder cause by a GAA expansion in the intron of the FXN gene. This gene codes for the protein frataxin, a mitochondrial protein involved in iron homeostasis. The mutation impairs transcription of the protein, so affected cells produce only 5-10% of the frataxin of healthy cells. [45]

  9. Stomping gait - Wikipedia

    en.wikipedia.org/wiki/Stomping_gait

    Stomping gait (or sensory ataxia gait) is a form of gait abnormality. It indicates involvement of posterior column. It indicates involvement of posterior column. Posterior column carries proprioception which is essential for coordination of motor movements.