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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 ...
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 ...
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]
Omaveloxolone, sold under the brand name Skyclarys, is a medication used for the treatment of Friedreich's ataxia. [1] [4] It is taken by mouth.[1]The most common side effects include an increase in alanine transaminase and an increase of aspartate aminotransferase, which can be signs of liver damage, headache, nausea, abdominal pain, fatigue, diarrhea and musculoskeletal pain.
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.
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]
545 245000 Ensembl ENSG00000175054 ENSMUSG00000032409 UniProt Q13535 Q9JKK8 RefSeq (mRNA) NM_001184 NM_001354579 NM_019864 RefSeq (protein) NP_001175 NP_001341508 n/a Location (UCSC) Chr 3: 142.45 – 142.58 Mb Chr 9: 95.74 – 95.83 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR ...
Ataxia-telangiectasia-like disorder; Xeroderma pigmentosum; RIDDLE syndrome; Friedreich ataxia; Early-onset cerebellar ataxia with retained tendon reflexes; Infantile onset spinocerebellar ataxia; Marinesco-Sjögren syndrome; Congenital cataracts-facial dysmorphism-neuropathy syndrome; Posterior column ataxia-retinitis pigmentosa syndrome