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

Lim, Shen-Yang and Ahmad-Annuar, Azlina and Lohmann, Katja and Tan, Ai Huey and Tay, Yi Wen and Lim, Jia Lun and Ramli, Norlisah and Teh, Pei Chiek and Kuppusamy, Rishikesan and Tan, Chong Tin and Goh, Khean Jin and Viswanathan, Shanthi and Bauer, Peter and Rolfs, Arndt and Klein, Christine (2021) Parkinson's disease with homozygous PINK1 p.Leu489Pro mutations in two Indian sisters. Neurology Asia, 26 (1). pp. 167-173. ISSN 1823-6138,

Full text not available from this repository.


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 presentation for PARK-PINK1, including young onset, a clear response to dopamine replacement therapy, and development of troublesome motor fluctuations and dyskinesias. Her dyskinesias improved substantially with clozapine treatment, which to our knowledge has not specifically been reported for PARK-PINK1; this treatment has been sustained for nearly a decade. The clinical phenotype of the older sister was more akin to later-onset ?idiopathic? PD; however, her brain MRI showed abnormal signal in the posterior limb of the internal capsules and the hypothalamus. Our report contributes to the scarce literature on monogenic PD in the Malaysian / Indian population, and further supports the pathogenicity of the PINK1 p.Leu489Pro variant.

Item Type: Article
Funders: None
Uncontrolled Keywords: Parkinson's disease; PINK1; Genetics; Asian; Indian; clozapine; MRI; Corticospinal tract
Subjects: R Medicine
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Divisions: Faculty of Medicine
Depositing User: Ms Zaharah Ramly
Date Deposited: 13 Sep 2022 08:18
Last Modified: 13 Sep 2022 08:18

Actions (login required)

View Item View Item