Article
A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2022
Fan Shanghua, Cao Qian, Peng Bin, Yin Bo, Xiao Ting, Sun Liu, Dong Hongjuan
Abstract excerpt
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.
Topics
- Adult
- Dystonia
- Dystonic Disorders
- GTP-Binding Protein alpha Subunits
- Genetic Testing
- Humans
- Mutation