Objective: To identify the genetic heterogeneity in 16 south Asian patient with Parkinson’s disease.

Background: Parkinson’s disease(PD) is the second most progressive neurodegenerative disorder with 10% to 15% of PD cases have a clear genetic inheritance pattern. There are several genes have been identified as causative or associated with PD. South Asian people with PD represent a significant proportion of the world’s population, but the genetics of PD in this group are not well studied compared to other populations. To understanding the genotype-phenotype correlation of PD requires large-scale studies. We present 16 patients diagnosed with PD from our ongoing study and their molecular genetic diagnosis

Method: This study included details of family and medical history, physical examination, and basic laboratory work up. Clinical and whole exome sequencing was performed for all the patients using validated and approved protocols. In patients where a pathogenic variant was detected, Sanger sequencing was performed for validation

Results: Based on age at onset 10 patients were categorized as early onset PD and 6 as late onset PD. Of the 16 patients, one had pathogenic variant in TRPV4 gene,10 had Variants of uncertain significance (VOUS) –  GBA, EIFAG1,LRRK1,SYNJ1,GRN,SPG7,DNAJC6,GIGYF2,PGLYRP2,CAV3,PLXNA4,LRRK2,GBA,VPS13C genes and 4 had no variants . The identified pathogenic variants were reported to have high to variable penetrance.

Conclusion: In the present study we reported12 rare gene variants including TRPV4, EIFAG1,LRRK1,SYNJ1,GRN,SPG7, DNAJC6,GIGYF2,PGLYRP2, CAV3, PLXNA4, VPS13C in 10 cases and two common variants in LRRK2 and GBA gene in 3 cases. These findings may have major implications towards genetic counseling, clinical management and developing target gene therapeutic strategies in future

References: 1. Klein C, Westenberger A. Genetics of Parkinson’s disease. Cold Spring Harb Perspect Med. 2012 Jan;2(1):a008888. doi: 10.1101/cshperspect.a008888. PMID: 22315721; PMCID: PMC3253033.
2. P. Kukkle, V. Goyal, T. Geetha, R. Menon, R. Kandadai, U. Mahadevia, H. Kumar, R. Borgohain, A. Mukherjee, P. Wadia, R. Yadav, S. Desai, N. Kumar, S. Nair, S. Murugan, A. Biswas, P. Pal, M. Oliver, S. Sundaram, M. Deshmukh, A. Bassi, C. Sandeep, N. Mandloi, A. Kayalvizhi, U. Muthane, S. Das, S. Seshagiri, R. Gupta, V. Ramprasad. Genetics Of Parkinson’s in India – Young Onset Parkinson’s Disease (GOPI-YOPD) : Genetics of Juvenile, Young and Early Onset Parkinson’s Disease [abstract]. Mov Disord. 2022; 37 (suppl 1). https://www.mdsabstracts.org/abstract/genetics-of-parkinsons-in-india-young-onset-parkinsons-disease-gopi-yopd-genetics-of-juvenile-young-and-early-onset-parkinsons-disease/. Accessed March 15, 2023.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-outcomes-of-south-asian-parkinsonism-cohort-from-a-tertiary-care-hospital/