Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

Jose M Bras; Rita J Guerreiro; James T H Teo; Lee Darwent; Jenny Vaughan; Sophie Molloy; John Hardy; Susanne A Schneider

doi:10.1002/mdc3.12008

Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

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

Authors

Jose M Bras¹, Rita J Guerreiro¹, James T H Teo², Lee Darwent¹, Jenny Vaughan², Sophie Molloy², John Hardy¹, Susanne A Schneider^{3

2}

Affiliations

¹ Department of Molecular Neuroscience Institute of Neurology, University College London London United Kingdom.
² Department of Clinical Neurosciences Charing Cross Hospital Imperial College Healthcare NHS Trust London United Kingdom.
³ Departmentof Neurology University of Kiel Kiel Germany.

Abstract

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.

Keywords: DJ1; PARK7; atypical parkinsonism; exome sequencing; genetic.

Publication types

Case Reports