PRKRA Mutation Causing Early‐Onset Generalized Dystonia‐Parkinsonism (DYT16) in an Italian Family

Additional Supporting Information may be found in the online version of this article at the publisher's website. SUPPORTING TABLE 1. Results of in silico prediction tools SUPPORTING TABLE 2. Detailed genotypes at the DYT16 locus SUPPORTING TABLE 3. Clinical characteristics in patients with PRKRA mutations SUPPORTING TABLE 4. Genes causing isolated or combined dystonia syndromes SUPPORTING TABLE 5. Genes causing parkinsonism VIDEO 1. Patient III-1. Onset of symptoms with spasmodic dysphonia at 8 years of age. Currently, he shows mild generalized dystonia, mainly in the larynx, and moderate bradykinesia. BFMS-M = 23/120; BFMS-D = 11/30. VIDEO 3. Patient III-4. Onset of symptoms with right upper limb dystonia at 3 years of age. The video shows the patient at the age of 35. Generalized dystonia and mild/moderate hypobradykinesia, dysarthria, diffuse muscles hypotrophy, and clubfoot are present. BFMS-M = 68/120; BFM-D = 14/30. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.