Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.

Shiqi FanKaichen TangJinxiao ChenMiao SunQian Chen

Published in: Gene (2024)

We described a large Chinese DRPLA pedigree in which the proband carried the largest CAG expansion reported in China. We also reviewed the characteristics of Chinese DRPLA patients and broadened the phenotypic spectrum.

Keyphrases

early onset
late onset
end stage renal disease
ejection fraction
prognostic factors
peritoneal dialysis
patient reported outcomes