A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms

GNAL mutations (DYT25) have lately been identified as the firstly proven cause of focal adult-onset dystonia. We report here a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is called NM 001,142,339:c.97C > T. Our research emphasizes the possible effects of new mutation on disease risk and the significance of genetic tests for GNAL mutations in confirming the molecular diagnosis.

Automated summary

GNAL mutations (DYT25) have been identified as the first confirmed cause of focal adult-onset dystonia. This study reports a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is referred to as NM 001,142,339:c.97C > T. The research highlights the potential impact of the new mutation on disease risk and stresses the importance of genetic testing for GNAL mutations in confirming the molecular diagnosis.