AI Article Synopsis
- ATXN2 intermediate-length trinucleotide repeat expansions have been linked to an increased risk of ALS across different ethnicities.
- A study examined 464 ALS patients and 703 controls in Korea, finding a significant difference in the frequency of CAG repeat lengths of 30 or more between the two groups.
- The results suggest that these intermediate-length ATXN2 repeat expansions could be a contributing risk factor for ALS specifically in Korean patients, despite no difference in clinical characteristics among patients with varying repeat lengths.
Article Abstract
ATXN2 intermediate-length trinucleotide repeat expansions have been reported as a risk factor for amyotrophic lateral sclerosis (ALS) in various ethnicities. We tried to confirm this finding in Korean patients with ALS by screening ATXN2 cytosine-adenine-guanine nucleotide sequences (CAG) repeat lengths in 464 unrelated ALS patients and 703 controls. The most common and the highest CAG repeat lengths in the controls were 22 and 28, respectively, whereas those in ALS patients were 22 and 33, respectively. The frequency of CAG repeat lengths of 30 or more was significantly different between the 2 groups after Bonferroni correction (1.5% in ALS vs. 0% in controls, corrected p = 0.0075). There were no significant differences in gender, age at onset, site of onset, functional rating scale-revised score at initial visit, calculated progression rate, or survival between patients with CAG repeat lengths of 30-33 and patients with CAG repeat lengths <30. These findings support the notion that intermediate-length ATXN2 repeat expansions might be a risk factor in Korean patients with ALS.
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| http://dx.doi.org/10.1016/j.neurobiolaging.2018.03.019 | DOI Listing |
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