Parkinson's disease with homozygous PINK1 p.Leu489Pro mutations in two Indian sisters
Document Type
Article
Publication Date
3-1-2021
Abstract
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.
Keywords
Parkinson's disease, PINK1, Genetics, Asian, Indian, clozapine, MRI, Corticospinal tract
Divisions
fac_med
Funders
None
Publication Title
Neurology Asia
Volume
26
Issue
1
Publisher
ASEAN Neurological Association
Publisher Location
UNIV MALAYA MEDICAL CENTRE, NEUROLOGY LABORATORY, KUALA LUMPUR, 59100, MALAYSIA