Send to

Choose Destination
Mov Disord Clin Pract. 2014 Apr 10;1(1):45-49. doi: 10.1002/mdc3.12008. eCollection 2014 Apr.

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.

Author information

Department of Molecular Neuroscience Institute of Neurology, University College London London United Kingdom.
Department of Clinical Neurosciences Charing Cross Hospital Imperial College Healthcare NHS Trust London United Kingdom.
Departmentof Neurology University of Kiel Kiel Germany.


We describe a sporadic case of atypical parkinsonism-dystonia of subacute onset at the age of 16 years in a male from a consanguineous family. He showed marked orofacial dystonia, levodopa-induced dyskinesia, and a stereotyped bilateral eye-pressing movement disorder. We combined Sanger sequencing of candidate genes, homozygosity mapping, and whole-exome sequencing. A homozygous mutation was identified disrupting a splice site in exon 5 of the DJ1 (PARK7) gene. Clinical details and a video are provided. DJ1 mutations are a rare cause of atypical complex parkinsonism. Exome sequencing is efficacious in identifying the causal gene variant.


DJ1; PARK7; atypical parkinsonism; exome sequencing; genetic

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center