Related Experiment Video
Updated: Feb 3, 2026

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
Published on: January 27, 2018
Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation
Jose M Bras1, Rita J Guerreiro1, James T H Teo2
1Department of Molecular Neuroscience Institute of Neurology, University College London London United Kingdom.
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.
More Related Videos
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Antipsychotic Drugs: Typical and Atypical Agents
Parkinson's Disease: Treatment
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Mutation, Gene Flow, and Genetic Drift

