Ontology highlight
ABSTRACT:
SUBMITTER: Bras JM
PROVIDER: S-EPMC6182985 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Movement disorders clinical practice 20140410 1
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 p ...[more]