Mutations in the PARK2 (PRKN) gene are the most common cause of autosomal-recessive (AR) juvenile parkinsonism and young-onset Parkinson's disease (YOPD).
Exome sequencing and Sanger sequencing were conducted in the index case diagnosed as juvenile parkinsonism and a homozygous variant, c.850G>C (p.G284R), in the parkin gene was identified.
Parkinson protein 2, E3 ubiquitin protein ligase (PARK2) gene mutations are the most frequent causes of autosomal recessive early onset Parkinson's disease and juvenile Parkinson disease.
Parkin, an E3 ubiquitin ligase well known for its role in the pathogenesis of juvenile Parkinson disease, has been considered as a candidate tumor suppressor in certain types of cancer.
To report the clinical features and results of iodine I 123-2beta-carbomethoxy-3beta-(4-iodophenyl)-tropane (CIT) single photon emission computed tomography and molecular genetic analysis in a Korean woman with juvenile Parkinson disease with deletion in exon 4 of the parkin gene.
However, as more than half of patients with JP do not carry a mutation in the 'parkin' gene, more investigations concerning nosological entities should be carried out.