Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with Gene Mutation c.558_560dup p.(Pro187dup).

We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the gene suggesting Partington syndrome. His main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep.

Reappearance of Symptoms after GPi-DBS Discontinuation in Cervical Dystonia.

Background: Deep brain stimulation of the globus pallidus interna (GPi-DBS) is a highly efficacious treatment for cervical dystonia. Typically, the treatment response is delayed, appearing and increasing even months after implantation. However, it is not known how fast the symptoms reappear and whether there is a long-term therapeutic effect after the stimulation is discontinued.