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

• Main Authors: Wong, Siaw Cheng, Tan, Zhun Foo, Tay, Yi-Wen, Law, Wan Chung, Ahmad Annuar, Azlina, Tan, Ai Huey, Lim, Shen-Yang
• Format: Article
• Published: ASEAN Neurological Association 2022
• Subjects: Medical technology
• Online Access: http://eprints.um.edu.my/41712/

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...