Parkinson's disease with homozygous PINK1 p.Leu489Pro mutations in two Indian sisters

• Main Authors: Lim, Shen-Yang, Ahmad-Annuar, Azlina, Lohmann, Katja, Tan, Ai Huey, Tay, Yi Wen, Lim, Jia Lun, Ramli, Norlisah, Teh, Pei Chiek, Kuppusamy, Rishikesan, Tan, Chong Tin, Goh, Khean Jin, Viswanathan, Shanthi, Bauer, Peter, Rolfs, Arndt, Klein, Christine
• Format: Article
• Published: ASEAN Neurological Association 2021
• Subjects: R Medicine; RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
• Online Access: http://eprints.um.edu.my/34636/
• Institution: Universiti Malaya

We describe the clinical features of two sisters with Parkinson?s disease (PD) of Indian descent living in Malaysia. Both were homozygous for the known PINK1 mutation p.Leu489Pro (c.1466T>C). The proband, who has been followed up by us over a span of 35 years, had a fairly ?classic? clinical pres...