Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3

AbstractSpinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) inATXN3. Factors associated with intergenerational instability (delta-expCAG) and genetic anticipation in SCA3 have never been reported in Chinese mainland. Here, we demonstrated that unstable transmissions occurred more often in sons than in daughters (91% vs 72%, Fisher ’s exact test,p = 0.012). The extended delta-expCAG of father-son transmissions was greater than that of mother-son transmissions (3.8 ± 2.3 repeats vs 1.6 ± 1.0 repeats, Mann-WhitneyU,p = 0.001). Genetic anticipation was frequently observed between generations but not affected by the delta-expCAG.
Source: The Cerebellum - Category: Neurology Source Type: research