Rare homozygous PRKN exon 7 duplication in a Ibanese patient from Northwestern Borneo with young onset Parkinson’s disease

Abstract

We describe the clinical features of a Sarawakian man of Ibanese ethnicity with young-onset Parkinson’s disease (PD), who carried a very rare homozygous PRKN exon 7 duplication. Truncal dystonia was a prominent feature on presentation, in addition to classical parkinsonian motor features. This report adds to the very limited literature on monogenic causes of PD in Southeast Asia and specifically the indigenous group in the Borneo region.