Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness

DYT-TOR1A is caused by a GAG deletion in the TOR1A gene. While it usually manifests as early-onset dystonia, its phenotype is extremely diverse, even within one family. Recent reports have revealed that some DYT-TOR1A cases have novel mutations in the TOR1A gene while others have mutations in both TOR1A and another DYT gene (THAP1 or SGCE). Our understanding of the correlation between genotype and phenotype is becoming increasingly complicated.Case presentations: Here, we report on monozygotic twins who developed dystonia in childhood.

Source: Brain and Development - April 5, 2021 Category: Neurology Authors: Yoshiyuki Hanaoka, Tomoyuki Akiyama, Harumi Yoshinaga, Ryousuke Miyamoto, Toshitaka Kawarai, Ryuji Kaji, Katsuhiro Kobayashi Tags: Case Report Source Type: research