Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort of spinocerebellar ataxia type 3
Ekaterina Nadbitova, Nobuyuki Takei, Sachiko Hirokawa, Yuya Hatano, Tomohiko Ishihara, Osamu Onodera, Yuka Mitsuhashi Koike · 2026
Read Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort of spinocerebellar ataxia type 3 by Ekaterina Nadbitova, Nobuyuki Takei, Sachiko Hirokawa, Yuya Hatano, Tomohiko Ishihara, Osamu Onodera, Yuka Mitsuhashi Koike (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13543455.txt.
Description
Ekaterina Nadbitova and colleagues published a 2026 replication study testing a reported genetic modifier of spinocerebellar ataxia type 3 in Japan. This inherited movement disorder is caused by a repeated DNA segment in the ATXN3 gene; repeat length predicts onset age only partly. A study in European and American cohorts had linked a PRKN gene variant, especially in two-copy carriers, to earlier onset. The team genotyped 228 Japanese patients with the ataxia and 260 patients with a related type as comparison.
Variant frequencies in patients matched both the comparison group and East Asian reference data. Only two patients carried the double copy of interest, leaving the study little power for that exact claim. Comparing single-copy carriers instead, onset age and repeat length were essentially identical, and adjusted analysis found no link between the variant and onset. Repeat length remained a strong predictor. The reported modifier effect did not replicate here.
Catalog record
| CREATOR | Ekaterina Nadbitova, Nobuyuki Takei, Sachiko Hirokawa, Yuya Hatano, Tomohiko Ishihara, Osamu Onodera, Yuka Mitsuhashi Koike |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22040 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |