Early-onset hyperkinetic movement disorder linked to KCTD17 genetic mutation: A case study

Takeaway

  • A mutation in the KCTD17 gene (potassium channel tetramerization domain [KCTD]-containing protein 17), and subsequent reduction of KCTD17 protein expression, is responsible for myoclonus-dystonia in an eight-year-old girl.

Why this matters

  • The observation of a new genetic mechanism for myoclonus-dystonia not only expands the phenotype of KCTD17-related disorders, but also indicates this gene plays a role in normal brain development.