Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation

We describe a case of young onset generalized dystonia, harboring a previously unreported likely pathogenic THAP1 missense variant (c.109 G > A; p.Glu37Lys) that was inherited from her unaffected father. Moreover, we report a positive effect of deep brain stimulation, particularly on the cervical component of dystonia.

Automated summary

We report a case of young onset generalized dystonia with a previously unreported likely pathogenic THAP1 gene mutation, which was inherited from the unaffected father. Additionally, deep brain stimulation was found to have a positive effect on the cervical symptoms of dystonia.