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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

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

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