Kim JS, Kwon S, Ki CS, Youn J, Cho JW.; J Clin Neurol. 2018 Jul;14(3):374-380. Doi:10.3988/jcn.2018.14.3.374
Although the AR ataxias such as ataxia telangiectasia or FRDA are prevalent in most countries, they are extremely rare in the Korean population.26 In addition, genetic screening did not detect FRDA in the patients with undetermined ataxia. Therefore, routine screening of the FTX gene in the Korean population might not be needed unless patients show a clinical phenotype of FRDA.
FRDA is extremely rare, and to the best of our knowledge has never detected in the Korean population. In addition, phenotypes of patients in whom FRDA screening test was performed, did not correspond with FRDA.
Thursday, July 5, 2018
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